Eugenics in the community: gendered professions and eugenic sterilization in Alberta, 1928-1972.

Science.gov (United States)

Samson, Amy

2014-01-01

Scholarship on Alberta's Sexual Sterilization Act (1928-1972) has focused on the high-level politics behind the legislation, its main administrative body, the Eugenics Board, and its legal legacy, overlooking the largely female-dominated professions that were responsible for operating the program outside of the provincial mental health institutions. This paper investigates the relationship between eugenics and the professions of teaching, public health nursing, and social work. It argues that the Canadian mental hygiene and eugenics movements, which were fundamentally connected, provided these professions with an opportunity to maintain and extend their professional authority.

The Genetics Underlying Vernalization in Timothy (Phleum pratense L.)

DEFF Research Database (Denmark)

Fiil, Alice

Vernalization is the process where the transition from the vegetative to the reproductive state is promoted by a prolonged period of cold. Timothy (Phleum pratense L.) is an important forage grass in the Nordic countries. Unlike many other temperate grasses, a vernalization requirement has not been...... reported in this species. The objectives of this Ph.D. study were to obtain a better understanding of vernalization in timothy and knowledge about the genetics underlying the vernalization response. The vernalization response was analyzed in 38 genotypes of diverse geographic origin. Vernalization...... that significant genetic variation for the vernalization response is present within timothy and suggest that differential regulation of VRN1 transcription discriminates genotypes with contrasting vernalization responses. In addition, the nucleotide diversity and linkage disequilibrium were analyzed in nine genes...

Down syndrome: coercion and eugenics.

Science.gov (United States)

McCabe, Linda L; McCabe, Edward R B

2011-08-01

Experts agree that coercion by insurance companies or governmental authorities to limit reproductive choice constitutes a eugenic practice. We discuss discrimination against families of children with Down syndrome who chose not to have prenatal testing or chose to continue a pregnancy after a prenatal diagnosis. We argue that this discrimination represents economic and social coercion to limit reproductive choice, and we present examples of governmental rhetoric and policies condoning eugenics and commercial policies meeting criteria established by experts for eugenics. Our purpose is to sensitize the clinical genetics community to these issues as we attempt to provide the most neutral nondirective prenatal genetic counseling we can, and as we provide postnatal care and counseling to children with Down syndrome and their families. We are concerned that if eugenic policies and practices targeting individuals with Down syndrome and their families are tolerated by clinical geneticists and the broader citizenry, then we increase the probability of eugenics directed toward other individuals and communities.

Eugenics and Involuntary Sterilization: 1907-2015.

Science.gov (United States)

Reilly, Philip R

2015-01-01

In England during the late nineteenth century, intellectuals, especially Francis Galton, called for a variety of eugenic policies aimed at ensuring the health of the human species. In the United States, members of the Progressive movement embraced eugenic ideas, especially immigration restriction and sterilization. Indiana enacted the first eugenic sterilization law in 1907, and the US Supreme Court upheld such laws in 1927. State programs targeted institutionalized, mentally disabled women. Beginning in the late 1930s, proponents rationalized involuntary sterilization as protecting vulnerable women from unwanted pregnancy. By World War II, programs in the United States had sterilized approximately 60,000 persons. After the horrific revelations concerning Nazi eugenics (German Hereditary Health Courts approved at least 400,000 sterilization operations in less than a decade), eugenic sterilization programs in the United States declined rapidly. Simplistic eugenic thinking has faded, but coerced sterilization remains widespread, especially in China and India. In many parts of the world, involuntary sterilization is still intermittently used against minority groups.

Selling eugenics: the case of Sweden.

Science.gov (United States)

Bjorkman, Maria; Widmalm, Sven

2010-12-20

This paper traces the early (1910s to 1920s) development of Swedish eugenics through a study of the social network that promoted it. The eugenics network consisted mainly of academics from a variety of disciplines, but with medicine and biology dominating; connections with German scientists who would later shape Nazi biopolitics were strong. The paper shows how the network used political lobbying (for example, using contacts with academically accomplished MPs) and various media strategies to gain scientific and political support for their cause, where a major goal was the creation of a eugenics institute (which opened in 1922). It also outlines the eugenic vision of the institute's first director, Herman Lundborg. In effect the network, and in particular Lundborg, promoted the view that politics should be guided by eugenics and by a genetically superior elite. The selling of eugenics in Sweden is an example of the co-production of science and social order.

Eugenics in Education: Apologetics for Oppression

Science.gov (United States)

Hartlep, Nicholas D.

2008-01-01

For many people an esoteric educational topic is eugenics. This brief text analysis will provide a textual as well as contextual analysis of Dr. Ann Gibson Winfield's book (2007) Eugenics and Education in America: Institutionalized Racism and the Implications of History, Ideology, and Memory. Winfield objectively critiques eugenic apologetics.…

"Eugenics talk" and the language of bioethics.

Science.gov (United States)

Wilkinson, S

2008-06-01

In bioethical discussions of preimplantation genetic diagnosis and prenatal screening, accusations of eugenics are commonplace, as are counter-claims that talk of eugenics is misleading and unhelpful. This paper asks whether "eugenics talk", in this context, is legitimate and useful or something to be avoided. It also looks at the extent to which this linguistic question can be answered without first answering relevant substantive moral questions. Its main conclusion is that the best and most non-partisan argument for avoiding eugenics talk is the Autonomy Argument. According to this, eugenics talk per se is not wrong, but there is something wrong with using its emotive power as a means of circumventing people's critical-rational faculties. The Autonomy Argument does not, however, tell against eugenics talk when such language is used to shock people into critical-rational thought. These conclusions do not depend on unique features of eugenics: similar considerations apply to emotive language throughout bioethics.

Eugenics and public health in American history.

Science.gov (United States)

Pernick, M S

1997-11-01

Supporters of eugenics, the powerful early 20th-century movement for improving human heredity, often attacked that era's dramatic improvements in public health and medicine for preserving the lives of people they considered hereditarily unfit. Eugenics and public health also battled over whether heredity played a significant role in infectious diseases. However, American public health and eugenics had much in common as well. Eugenic methods often were modeled on the infection control techniques of public health. The goals, values, and concepts of disease of these two movements also often overlapped. This paper sketches some of the key similarities and differences between eugenics and public health in the United States, and it examines how their relationship was shaped by the interaction of science and culture. The results demonstrate that eugenics was not an isolated movement whose significance is confined to the histories of genetics and pseudoscience, but was instead an important and cautionary part of past public health and a general medical history as well.

“Eugenics talk” and the language of bioethics

Science.gov (United States)

Wilkinson, S

2008-01-01

In bioethical discussions of preimplantation genetic diagnosis and prenatal screening, accusations of eugenics are commonplace, as are counter-claims that talk of eugenics is misleading and unhelpful. This paper asks whether “eugenics talk”, in this context, is legitimate and useful or something to be avoided. It also looks at the extent to which this linguistic question can be answered without first answering relevant substantive moral questions. Its main conclusion is that the best and most non-partisan argument for avoiding eugenics talk is the Autonomy Argument. According to this, eugenics talk per se is not wrong, but there is something wrong with using its emotive power as a means of circumventing people’s critical–rational faculties. The Autonomy Argument does not, however, tell against eugenics talk when such language is used to shock people into critical–rational thought. These conclusions do not depend on unique features of eugenics: similar considerations apply to emotive language throughout bioethics. PMID:18511622

Eugenics and Curriculum: 1860-1929.

Science.gov (United States)

Selden, Steven

1978-01-01

Examines ideas about heredity, racism, and the development of the eugenics movement, which influenced curriculum thinkers in the period of the "naturalistic mind" and progressivism; the eugenics movement's influence upon education for the gifted; and continuing similar attitudes as to the limited effect of environment on individuals…

Huntington\\'s disease: Genetic heterogeneity in black African patients

African Journals Online (AJOL)

Objective. Huntington's disease (HD) has been reported to occur rarely in black patients. A new genetic variant– Huntington's disease-like 2 (HDL2) – occurring more frequently in blacks, has recently been described. The absence of an expanded trinucleotide repeat at the chromosome 4 HD locus was previously regarded ...

[Sir Francis Galton: the father of eugenics].

Science.gov (United States)

Aubert-Marson, Dominique

2009-01-01

Not only was Sir Francis Galton a famous geographer and statistician, he also invented "eugenics" in 1883. Eugenics, defined as the science of improving racial stock, was developed from a new heredity theory, conceived by Galton himself, and from the evolution theory of Charles Darwin, transposed to human society by Herbert Spencer. Galton's eugenics was a program to artificially produce a better human race through regulating marriage and thus procreation. Galton put particular emphasis on "positive eugenics", aimed at encouraging the physically and mentally superior members of the population to choose partners with similar traits. In 1904, he presented his ideas in front of a vast audience of physicians and scientists in London. His widely-publicized lecture served as the starting point for the development of eugenics groups in Europe and the United States during the first half of the 20th century.

The eugenic legacy in psychology and psychiatry.

Science.gov (United States)

Pilgrim, David

2008-05-01

Assumptions about genetic differences in human mental characteristics can be traced in large part to the eugenic movement, ascendant at the turn of the 20th century. This paper offers historical case studies, of 'innate general cognitive ability' and 'psychiatric genetics', in order to appraise the eugenic legacy in current psychology and psychiatry. Reviewing the work of representatives, Cyril Burt, Franz Kallmann and Eliot Slater, along with their research networks, it is argued that eugenics remains a quiet but powerful background influence in modern-day psychology and psychiatry. At the turn of the 21st century, eugenics remains an important area of inquiry, reflection and education for those in the inter-disciplinary field of social psychiatry.

The public and private history of eugenics: an introduction.

Science.gov (United States)

Burke, Chloe S; Castaneda, Christopher J

2007-01-01

Inspired by our experience addressing the legacy of eugenics at California State University, Sacramento, this special issue presents an array of articles representative of diverse approaches to the historical investigation of eugenics. This article provides an introduction to the history of eugenics and explores the ways in which public history is particularly well suited to shape the historical memory of eugenics and encourage dialogue about contemporary biotechnologies.

Advertising eugenics: Charles M. Goethe's campaign to improve the race.

Science.gov (United States)

Schoenl, William; Peck, Danielle

2010-06-01

Over the last several decades historians have shown that the eugenics movement appealed to an extraordinarily wide constituency. Far from being the brainchild of the members of any one particular political ideology, eugenics made sense to a diverse range of Americans and was promoted by professionals ranging from geneticists and physicians to politicians and economists.(1) Seduced by promises of permanent fixes to national problems, and attracted to the idea of a scientifically legitimate form of social activism, eugenics quickly grew in popularity during the first decades of the twentieth century. Charles M. Goethe, the land developer, entrepreneur, conservationist and skilled advertiser who founded the Eugenics Society of Northern California, exemplifies the broad appeal of the eugenics movement. Goethe played an active role within the American eugenics movement at its peak in the 1920s. The last president of the Eugenics Research Association,(2) he also campaigned hard against Mexican immigration to the US and he continued open support for the Nazi regime's eugenic practices into the later 1930s.(3) This article examines Goethe's eugenic vision and, drawing on his correspondence with the leading geneticist Charles Davenport, explores the relationship between academic and non-academic advocates of eugenics in America. Published by Elsevier Ltd.

Luis Huerta: Eugenics, Medicine and Pedagogy in Spain

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Luis Miguel LÁZARO LORENTE

2013-11-01

Full Text Available By comparison with the historiography of other European and Anglo-Saxon countries, the study of the origins and spread of Eugenics in Spain has not received much attention. Even less research has been done on the degree of acceptance of eugenic thought in the pedagogical domain or on the role teachers may have in the diffusion of eugenics. This paper attempts to explore the subject while focusing the analysis on the relations that were established among Medicine, Pedagogy and Eugenics in Spain during the first third of the 20th century. We will take as a point of reference and guiding line of thought the figure of the Asturian teacher Luis Huerta Naves, who was the driving force and tireless advocate of the eugenics movement in our country.

Huntington's disease presenting as amyotrophic lateral sclerosis.

LENUS (Irish Health Repository)

Phukan, Julie

2010-08-01

We present the clinical, electrophysiological and molecular genetic findings of a 58-year-old male with genetically confirmed Huntington\\'s disease (HD) and concurrent clinically definite ALS by El Escorial criteria. The patient presented with asymmetric upper limb amyotrophy and weakness, and subsequently developed chorea and cognitive change. Genetic testing confirmed the presence of expanded trinucleotide repeats in huntingtin, consistent with a diagnosis of Huntington\\'s disease. This case confirms the rare coexistence of Huntington\\'s disease and motor neuron degeneration.

Perceptions of genetic discrimination among people at risk for Huntington?s disease: a cross sectional survey

OpenAIRE

Bombard, Yvonne; Veenstra, Gerry; Friedman, Jan M; Creighton, Susan; Currie, Lauren; Paulsen, Jane S; Bottorff, Joan L; Hayden, Michael R

2009-01-01

Objective To assess the nature and prevalence of genetic discrimination experienced by people at risk for Huntington?s disease who had undergone genetic testing or remained untested. Design Cross sectional, self reported survey. Setting Seven genetics and movement disorders clinics servicing rural and urban communities in Canada. Participants 233 genetically tested and untested asymptomatic people at risk for Huntington?s disease (response rate 80%): 167 underwent testing (83 had the Huntingt...

Omaenese edevuse ohver Timothy Treadwell / Mati Kaal

Index Scriptorium Estoniae

Kaal, Mati, 1946-

2007-01-01

Dokumentaalfilm "Grislimees" ("Grizzly Man") Timothy Treadwellist, kes elas 13 aastat Alaskal koos grislidega, režissöör Werner Herzog (Ameerika Ühendriigid, 2005). Tallinna Loomaaia direktor arutleb inimliku edevuse teemal, mis metsikus looduses viis režissööri traagilise hukuni

Rational subjects, marriage counselling and the conundrums of eugenics.

Science.gov (United States)

Gerodetti, Natalia

2008-06-01

Against the background of degeneration and the perceived threat to the nation's health and stock, family politics came to constitute an important site for eugenic discourses and interventions. Eugenic regulation of reproductive sexuality and marriage was not only pursued through 'negative' eugenics but also through educational policies targeted at young adults and youth. Switzerland serves as a useful case to explore a general idea, namely the limitations for eugenicists of exploiting the concept of a rational subject in order to achieve their ends. Practices of 'positive eugenics' crucially hinged on the utilitarian principle of rationality underpinning positive eugenics which this paper seeks to elaborate. Eugenicists devised tools to deal efficiently with social problems on a collective as well as an individual basis by deploying technologies of government which conceived individuals to be members of a population who were each held responsible for the generation of healthy future generations. As a form of 'sustaining, multiplying and ordering life' eugenics thus relied on the premise that its ideas would be adopted through an appeal to rationality and, where this was insufficient, through a series of coercive measures. Relying on conviction and education about the merits of eugenics, however, posed particular problems to positive eugenic thinking and practice.

Better science and better race? Social Darwinism and Chinese eugenics.

Science.gov (United States)

Chung, Yuehtsen Juliette

2014-12-01

This essay explores the variegated roles played by racial, eugenic, and Social Darwinist discourse in China over roughly the last century. Using Japan as a parallel for comparison, it analyzes the introduction of the term "eugenics" into Japanese and Chinese. It then locates the deployment of eugenics and Social Darwinism as counterimperial discourse in East Asia. It offers a brief history of eugenics thinking in China across the twentieth century, focusing on the Chinese eugenicist Pan Guangdan, who used race as a category of analysis yet without any sense of hierarchy. He was critically aware of the scientific basis of eugenics and helped craft the study of eugenics in China, from biology to sociology, from economics to ethnology.

Eugenics: The Threat of the Feeble Minded.

Science.gov (United States)

Winzer, Margaret; O'Connor, Anne

1982-01-01

The history of the eugenics movement is reviewed. The authors conclude that, despite changed terminology and a shifting emphasis, advocacy of eugenics and its discrimination against poor and mentally retarded persons still persists today. (MC)

Back to the future: eugenics--a bibliographic essay.

Science.gov (United States)

Cullen, David

2007-01-01

The following essay is a review of the literature about the American eugenics movement produced by scholars over the last fifty years. The essay provides an explanation for today's renewed interest in the subject and for why the science of eugenics remains relevant to contemporary society. The essay examines the catalyst to re-examine the eugenics movement, the influence of Darwinian thought upon its development, the political and institutional support for its growth, the relationship between eugenics, sterilization, and sex, and how the twentieth-century promises of the science of better breeding was a precursor to the twenty-first-century promise of genetic engineering.

Moderate eugenics and human enhancement.

Science.gov (United States)

Selgelid, Michael J

2014-02-01

Though the reputation of eugenics has been tarnished by history, eugenics per se is not necessarily a bad thing. Many advocate a liberal new eugenics--where individuals are free to choose whether or not to employ genetic technologies for reproductive purposes. Though genetic interventions aimed at the prevention of severe genetic disorders may be morally and socially acceptable, reproductive liberty in the context of enhancement may conflict with equality. Enhancement could also have adverse effects on utility. The enhancement debate requires a shift in focus. What the equality and/or utility costs of enhancement will be is an empirical question. Rather than philosophical speculation, more social science research is needed to address it. Philosophers, meanwhile, should address head-on the question of how to strike a balance between liberty, equality, and utility in cases of conflict (in the context of genetics).

Eugenics and American social history, 1880-1950.

Science.gov (United States)

Allen, G E

1989-01-01

Eugenics, the attempt to improve the human species socially through better breeding was a widespread and popular movement in the United States and Europe between 1910 and 1940. Eugenics was an attempt to use science (the newly discovered Mendelian laws of heredity) to solve social problems (crime, alcoholism, prostitution, rebelliousness), using trained experts. Eugenics gained much support from progressive reform thinkers, who sought to plan social development using expert knowledge in both the social and natural sciences. In eugenics, progressive reformers saw the opportunity to attack social problems efficiently by treating the cause (bad heredity) rather than the effect. Much of the impetus for social and economic reform came from class conflict in the period 1880-1930, resulting from industrialization, unemployment, working conditions, periodic depressions, and unionization. In response, the industrialist class adopted firmer measures of economic control (abandonment of laissez-faire principles), the principles of government regulation (interstate commerce, labor), and the cult of industrial efficiency. Eugenics was only one aspect of progressive reform, but as a scientific claim to explain the cause of social problems, it was a particularly powerful weapon in the arsenal of class conflict at the time.

Psychopathology in Huntington's disease

NARCIS (Netherlands)

Duijn, Erik van

2010-01-01

Dit proefschrift begint met een overzichtsartikel van oorspronkelijke onderzoek naar psychopathologie bij mutatiedragers voor de ziekte van Huntington. Aansluitend worden de resultaten van een cohortstudie naar de aanwezigheid en ernst van psychopathologie bij mensen met de ziekte van Huntington in

Between Germanic and Latin eugenics: Portugal, 1930-1960

Directory of Open Access Journals (Sweden)

Richard Mark Cleminson

Full Text Available Abstract This article assesses critically the participation of Portuguese eugenicists in “Latin eugenics” and traces the continuities and discontinuities with respect to this model. In particular, it focuses on a number of examples of more “Germanic” eugenics in contrast and in comparison to Latin versions of eugenics. In the former category, Eusébio Tamagnini, José Ayres de Azevedo and Leopoldina Ferreira de Paulo are considered; in the latter category, especially the work of Almerindo Lessa on “racial mixing” is considered. The conclusions suggest that we should seek diversity in both Latin and northern European eugenic models while at the same time placing Portugal within the array of possible versions of eugenics during the first half of the twentieth century.

Social imaginaries: the literature of eugenics.

Science.gov (United States)

Sinclair, Alison

2008-06-01

This paper starts from a premise relating to the act of fictional writing about eugenics and the way it may be understood as the embodiment and enactment of social imaginaries. It proposes that literature (in the sense of fiction) frequently, if not habitually, expresses the underside of what is expressed in public discourse. That is, far from being the implement of state policy or intervention, it acts in counterpoint to the state, constituting a type of social fantasy in that it explores through the realm of the imagination what might happen. It becomes the arena for contestation, exploration, and nuancing as it essays how ideas from public, 'real' life, might transform when acted out. The paper considers two sorts of literary case. First it looks at that of 'naïve' literature, harnessed unashamedly to a specific sociological discourse of eugenics. Then, using primarily Ibsen, it considers a subset, the case of literature that does not set out to be explicitly in the service of the cause of eugenics, but is appropriated and disseminated from a platform of eugenics. Lastly, taking the example of Unamuno's Amor y pedagogía (1902) the paper considers literature that exists in a quite different sphere of public awareness. It shows awareness of the arguments and precepts of eugenics and related beliefs and practices, but acts as a transitional space (in the terms of Winnicott) to enable such ideas to be entertained and thought about, without a requirement of acceptance or belief.

VT Data - Zoning 20120709, Huntington

Data.gov (United States)

Vermont Center for Geographic Information — Zoning district data for the Town of Huntington, Vermont. For details regarding each zoning district refer to the current zoning regulations on town of Huntington's...

[Eugenics, an element of the literary plots of dystopia].

Science.gov (United States)

Baum, Ewa; Musielak, Michał

2007-01-01

The work presents the ideas and assumptions of eugenics, a social philosophy established in 1883 by Francis Galton, which affected the social policies of numerous European countries in the first half of the 20th century. The work shows the effect of eugenics on the literary standards of European prose in the previous century. Two outstanding dystopian novels of the 20th century, The Brave New World by Aldous Huxley and 1984 by George Orwell, situate eugenics as a permanent element of the literary plot of dystopia. Apart from the typical features of this type of novel, for example: personal narration with a trace of irony, a totalitarian state and Newspeak, eugenics is an important element of the literary plot with is aim to exclude and marginalise certain social groups. Eugenics is also one of the main social ideas criticised by both the writers.

Eugenics discourse and racial improvement in Republican China (1911-1949).

Science.gov (United States)

Sihn, Kyu-hwan

2010-12-31

This paper aimed to examine the advent of eugenics and its characteristics in republican China. Although eugenics was introduced into China as a discourse to preserve and improve race by the 1898 reformers such as Yan Fu (1854-1921) and Yi Nai (1875-?) in the late imperial period, it was not until the republican period that eugenics discourse started to combine with the discourse and movement related to social reform. The May 4th intellectuals put forward criticisms of Confucian patriarchy, propagating science and democracy. They pointed out that the large family system was a source of every social evil, and argued the need for a small family system based on monogamy. The aim of the small family system was to improve both the race and the environment. Such thinkers argued that freedom of love and the liberation of individuality were necessary for this end. Zhou Jianren (1888-1984), Lu Xun's youngest brother and representative eugenicist in the May 4th period, combined eugenics with freedom of love and the liberation of individuality. Pan Guangdan (1899-1967) and Zhou Jianren debated the eugenics controversy in the 1920s. They raised the freedom of love and the liberation of individuality as central issues related to the eugenics controversy. The eugenics debate was developed into the controversy between biological determinism and environmentalism in the late 1920s. However, these issues did not continue to be brought up in the 1930s. The main issues concerning the eugenics controversy in the 1930s were cultural identity and the population problem. Particularly in the 1930s, the scope of birth control as the solution to the population problem was extended from the individual person and family to nation and race. For eugenicists like Pan Guangdan, birth control violated the aim of eugenics and brought about the degeneration of the race. However, such theorists did not deny the value of birth control itself. The supporters of birth control thought that selecting

Perspectives: Eugenics and Sterilization in the Heartland.

Science.gov (United States)

Wehmeyer, Michael L.

2003-01-01

Noting the Governor of Virginia's recent apology for his state's participation in eugenics, this article reviews the history of the sterilization of people with epilepsy and mental retardation in several states, and the importance of the Buck v. Bell (1927) Supreme Court decision in the promotion of eugenics. (Contains references.) (CR)

Eugenics and the Social Construction of Merit, Race, and Disability.

Science.gov (United States)

Selden, Steven

2000-01-01

Contends that eugenics is an example of normalization. Outlines an aspect of this process by analyzing: (1) the popular eugenic knowledge exhibited at U.S. state fairs; and (2) the mainstream eugenic knowledge found in the work of Leta S. Hollingworth who was an early leader in gifted education. (CMK)

Current eugenics: A brand new challenge for scientific disciplines

Directory of Open Access Journals (Sweden)

María de las Mercedes O´Lery

2006-01-01

Full Text Available Until now, the parameters that distinguish the current eugenic practices form those encased in classic eugenics have been the private, individual and therapeutic characteristics of the first as opposed to the collective, coercive and improvement nature of the second. However, the present ethical debate over biotechnologies (particularly, criticism of liberal eugenics by such authors as Jürgen Habermas has given rise to the need to consider, in the future, genetic treatment as an object of the redistribution in order to avoid the discrimination implied in the impossibility of access to such treatment. The present paper attempts to show that this pretension would lead to the future dissolution of those very characteristics of current eugenics that distinguish it from the classic form. we therefore propose an epistemological analysis of present and/or future scientific practices in order to redefine those parameters that prevent their identification with the eugenic movement of the past century.

Eugenic utopias/dystopias, reprogenetics, and community genetics.

Science.gov (United States)

Raz, Aviad E

2009-05-01

The impetus for this review is the intriguing realisation that eugenics, viewed as dystopian and authoritarian in most of the 20th century, is in the process of being reinterpreted today--in the context of reproductive genetics--as utopian and liberal. This review offers an analytical framework for mapping the growing literature on this subject in order to provide a summary for both teaching and research in medical sociology. Recent works are subsumed and explored in three areas: historical criticism of the 'old eugenics'; the continuation of this stream in the form of criticism of reprogenetics as a new, 'backdoor' eugenic regime of bio-governmentality--an area which also includes the application of Foucauldian and feminist perspectives; and the recent enthusiasm regarding 'liberal eugenics,' claiming that reprogenetic decisions should be left to individual consumers thus enhancing their options in the health market. The review concludes by discussing and illustrating potential research directions in this field, with a focus on the social and ethical aspects of 'community genetics' and its emerging networks of individuals genetically at risk.

Eugenics without the state: anarchism in Catalonia, 1900-1937.

Science.gov (United States)

Cleminson, Richard

2008-06-01

Current historiography has considered eugenics to be an emanation from state structures or a movement which sought to appeal to the state in order to implement eugenic reform. This paper examines the limitations of that view and argues that it is necessary to expand our horizons to consider particularly working-class eugenics movements that were based on the dissemination of knowledge about sex and which did not aspire to positions of political power. The paper argues that anarchism, with its contradictory practice afforded by the convulsive social situation of the Civil War in Spain, allows us to assess critically the parameters of the social action of eugenics, its many alliances, and its struggle for existence in changing political circumstances not of its own making.

On the concept of eugenics: preliminaries to a critical appraisal

Directory of Open Access Journals (Sweden)

Demetrio Neri

Full Text Available This paper's main issue is linked to what can be foreseen as the increasing capability of medical genetics to modify the genetic composition of the human species through direct interventions in the human genome for medical and non-medical purposes, i.e., the 'risk' of a resurgence of eugenics. In current discussions on the topic (briefly presented in the first section, the 'phantom of eugenics' is raised several times, but there is a great deal of confusion on what counts as eugenics, partly because of broad conceptual disagreement over the notion itself. Furthermore, according to some scholars there is no hope of overcoming this unsatisfactory conceptual uncertainty. Partly challenging this opinion, the second and third sections of this paper attempt to identify some basic features which could be seen as intrinsically linked to the notion of eugenics, with the aim of reducing the range of conceptual disagreement as a preliminary step in bringing into focus what exactly is wrong with practicing eugenics. The subsequent sections deal with the substantive issue of whether or not to practice eugenics from the point of view of the interest of future generations in the human species' genetic composition. The main moral arguments for and against eugenics are examined from the point of view of our obligations towards future generations, and the conclusion is in favor of a cautious 'open-door' position.

On the concept of eugenics: preliminaries to a critical appraisal

Directory of Open Access Journals (Sweden)

Neri Demetrio

1999-01-01

Full Text Available This paper's main issue is linked to what can be foreseen as the increasing capability of medical genetics to modify the genetic composition of the human species through direct interventions in the human genome for medical and non-medical purposes, i.e., the 'risk' of a resurgence of eugenics. In current discussions on the topic (briefly presented in the first section, the 'phantom of eugenics' is raised several times, but there is a great deal of confusion on what counts as eugenics, partly because of broad conceptual disagreement over the notion itself. Furthermore, according to some scholars there is no hope of overcoming this unsatisfactory conceptual uncertainty. Partly challenging this opinion, the second and third sections of this paper attempt to identify some basic features which could be seen as intrinsically linked to the notion of eugenics, with the aim of reducing the range of conceptual disagreement as a preliminary step in bringing into focus what exactly is wrong with practicing eugenics. The subsequent sections deal with the substantive issue of whether or not to practice eugenics from the point of view of the interest of future generations in the human species' genetic composition. The main moral arguments for and against eugenics are examined from the point of view of our obligations towards future generations, and the conclusion is in favor of a cautious 'open-door' position.

Clinical presentation of juvenile Huntington disease

Directory of Open Access Journals (Sweden)

Ruocco Heloísa H.

2006-01-01

Full Text Available OBJECTIVE: To describe the clinical presentation a group of patients with juvenile onset of Huntington disease. METHOD: All patients were interviewed following a structured clinical questioner. Patients were genotyped for the trinucleotide cytosine-adenine-guanine (CAG repeat in the Huntington Disease gene. High resolution brain MRI was performed in all patients. RESULTS: We identified 4 patients with juvenile onset of disease among 50 patients with Huntington disease followed prospectively in our Neurogenetics clinic. Age at onset varied from 3 to 13 years, there were 2 boys, and 3 patients had a paternal inheritance of the disease. Expanded Huntington disease allele sizes varied from 41 to 69 trinucleotide repeats. The early onset patients presented with rigidity, bradykinesia, dystonia, dysarthria, seizures and ataxia. MRI showed severe volume loss of caudate and putamen nuclei (p=0.001 and reduced cerebral and cerebellum volumes (p=0.01. CONCLUSION: 8% of Huntington disease patients seen in our clinic had juvenile onset of the disease. They did not present with typical chorea as seen in adult onset Huntington disease. There was a predominance of rigidity and bradykinesia. Two other important clinical features were seizures and ataxia, which related with the imaging findings of early cortical atrophy and cerebellum volume loss.

Assisted procreation and its relationship to genetics and eugenics.

Science.gov (United States)

Ricci, Mariella Lombardi

2009-01-01

The article below is intended to reflect on whether or not a eugenic tendency constitutes an intrinsic element of human fertilization in vitro. The author outlines ideas and circumstances which characterized the foundation and propagation of eugenics between the eighteenth and nineteenth centuries. A brief discussion follows on some of the standard procedures of in vitro fertilization, and in particular, those which manifest a trace or hint of eugenics--heterologous fertilization and sperm banking, preimplantation genetic diagnosis (PGD) and embryo selection--practices which, nonetheless, are used on a large scale and shed light on both the essence of procreative medicine and on the current cultural environment. The objective of the article is to explore whether it is possible to eliminate the eugenic connotations without foregoing the benefits of technical and scientific progress.

[Application of case-based method in genetics and eugenics teaching].

Science.gov (United States)

Li, Ya-Xuan; Zhao, Xin; Zhang, Fei-Xiong; Hu, Ying-Kao; Yan, Yue-Ming; Cai, Min-Hua; Li, Xiao-Hui

2012-05-01

Genetics and Eugenics is a cross-discipline between genetics and eugenics. It is a common curriculum in many Chinese universities. In order to increase the learning interest, we introduced case teaching method and got a better teaching effect. Based on our teaching practices, we summarized some experiences about this subject. In this article, the main problem of case-based method applied in Genetics and Eugenics teaching was discussed.

Eugenics in Japan: some ironies of modernity, 1883-1945.

Science.gov (United States)

Otsubo, S; Bartholomew, J R

1998-01-01

Japanese eugenic discourse and institution building contrast sharply with comparable movements elsewhere. As a social-intellectual phenomenon, Anglo-American eugenics considered the Japanese racially inferior to Western peoples; yet eugenic ideals and policies achieved a remarkable popularity in Japan. Most of mainstream Japanese genetics was derived from orthodox Mendelian roots in Germany and (to a lesser degree) the United States. But French-style Lamarckian notions of the inheritability of acquired characters held surprising popularity among enthusiasts of eugenics. Japanese eugenicists could condemn the actions of foreign eugenicists like Charles Davenport in the United States for their efforts to forbid Japanese immigration in the 1920s, yet appeal to these same eugenicists as a source of legitimacy in Japan. These paradoxes can partly be explained against a background of relative isolation in a period of profound social change. Few Japanese eugenicists had close personal contact with foreign eugenicists, and most of their knowledge was acquired through reading rather than direct exposure. The eugenic ideal of ethnic purity was attractive to a society long accustomed to monoracial self-imagery. The need to defend national independence in an era of high imperialism seemed to require the most up-to-date policies and ideas. And Japan's own acquisition of an overseas empire seemed to demand a population management philosophy ostensibly based on scientific principles. These and other forces supported the implementation of eugenic policies and prescriptions among the Japanese people in the first half of the twentieth century.

Reflections on the Historiography of American Eugenics: Trends, Fractures, Tensions.

Science.gov (United States)

Paul, Diane B

2016-12-01

By the 1950s, eugenics had lost its scientific status; it now belonged to the context rather than to the content of science. Interest in the subject was also at low ebb. But that situation would soon change dramatically. Indeed, in an essay-review published in 1993, Philip Pauly commented that a "eugenics industry" had come to rival the "Darwin industry" in importance, although the former seemed less integrated than the latter. Since then, the pace of publication on eugenics, including American eugenics, has only accelerated, while the field has become even more fractured, moving in multiple and even contradictory directions. This essay explores the trajectory of work on the history of American eugenics since interest in the subject revived in the 1960s, noting trends and also fractures. The latter are seen to result partly from the fact that professional historians no longer own the subject, which has attracted the interest of scholars in several other disciplines as well as scientists, political activists, and journalists, and also from the fact that the history of eugenics has almost always been policy-oriented. Historians' desire to be policy-relevant and at the same time attentive to context, complexity, and contingency has generated tensions at several levels: within individuals, among historians, and between professional historians and others who also engage with the history of eugenics. That these tensions are resolved differently by different authors and even by the same authors at different times helps explain why the fragmentation that Pauly noted is not likely to be overcome anytime soon.

The strength of a loosely defined movement: eugenics and medicine in imperial Russia.

Science.gov (United States)

Krementsov, Nikolai

2015-01-01

This essay examines the 'infiltration' of eugenics into Russian medical discourse during the formation of the eugenics movement in western Europe and North America in 1900-17. It describes the efforts of two Russian physicians, the bacteriologist and hygienist Nikolai Gamaleia (1859-1949) and the psychiatrist Tikhon Iudin (1879-1949), to introduce eugenics to the Russian medical community, analysing in detail what attracted these representatives of two different medical specialties to eugenic ideas, ideals, and policies advocated by their western colleagues. On the basis of a close examination of the similarities and differences in Gamaleia's and Iudin's attitudes to eugenics, the essay argues that lack of cohesiveness gave the early eugenics movement a unique strength. The loose mix of widely varying ideas, ideals, methods, policies, activities and proposals covered by the umbrella of eugenics offered to a variety of educated professionals in Russia and elsewhere the possibility of choosing, adopting and adapting particular elements to their own national, professional, institutional and disciplinary contexts, interests and agendas.

Eugenics, genetics, and mental illness stigma in Chinese Americans.

Science.gov (United States)

WonPat-Borja, Ahtoy J; Yang, Lawrence H; Link, Bruce G; Phelan, Jo C

2012-01-01

The increasing interest in the genetic causes of mental disorders may exacerbate existing stigma if negative beliefs about a genetic illness are generally accepted. China's history of policy-level eugenics and genetic discrimination in the workplace suggests that Chinese communities will view genetic mental illness less favorably than mental illness with non-genetic causes. The aim of this study is to identify differences between Chinese Americans and European Americans in eugenic beliefs and stigma toward people with genetic mental illness. We utilized data from a 2003 national telephone survey designed to measure how public perceptions of mental illness differ if the illness is described as genetic. The Chinese American (n = 42) and European American (n = 428) subsamples were analyzed to compare their support of eugenic belief items and measures of stigma. Chinese Americans endorsed all four eugenic statements more strongly than European Americans. Ethnicity significantly moderated the relationship between genetic attribution and three out of five stigma outcomes; however, genetic attribution actually appeared to be de-stigmatizing for Chinese Americans while it increased stigma or made no difference for European Americans. Our findings show that while Chinese Americans hold more eugenic beliefs than European Americans, these attributions do not have the same effect on stigma as they do in Western cultures. These results suggest that future anti-stigma efforts must focus on eugenic attitudes as well as cultural beliefs for Chinese Americans, and that the effects of genetic attributions for mental illness should be examined relative to other social, moral, and religious attributions common in Chinese culture.

Timothy Coombs: kriise tekib maailmas üha enam / intervjueerinud Kristel Abel

Index Scriptorium Estoniae

Coombs, Timothy

2013-01-01

Intervjuu riski- ja kriisikommunikatsiooni tippspetsialisti dr W. Timothy Coombsiga, kes räägib kriisikommunikatsiooni hetkeseisust ning jagab nõu, kuidas kriisikommunikatsiooniga toime tulla. Ta on välja arendanud situatsiooni kriisikommunikatsiooni teooria

In vitro eugenics.

Science.gov (United States)

Sparrow, Robert

2014-11-01

A series of recent scientific results suggest that, in the not-too-distant future, it will be possible to create viable human gametes from human stem cells. This paper discusses the potential of this technology to make possible what I call 'in vitro eugenics': the deliberate breeding of human beings in vitro by fusing sperm and egg derived from different stem-cell lines to create an embryo and then deriving new gametes from stem cells derived from that embryo. Repeated iterations of this process would allow scientists to proceed through multiple human generations in the laboratory. In vitro eugenics might be used to study the heredity of genetic disorders and to produce cell lines of a desired character for medical applications. More controversially, it might also function as a powerful technology of 'human enhancement' by allowing researchers to use all the techniques of selective breeding to produce individuals with a desired genotype. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Eugenics, Mental Deficiency and Fabian Socialism between the Wars.

Science.gov (United States)

Ray, L. J.

1983-01-01

Eugenics was not exclusively the concern of conservatives; it also appealed to certain socialists, particularly those whose middle class status was dependent upon their expert services and who believed that social problems could be resolved scientifically. Reasons for the appeal of eugenics to this group are discussed. (IS)

The Strength of a Loosely Defined Movement: Eugenics and Medicine in Imperial Russia

Science.gov (United States)

Krementsov, Nikolai

2015-01-01

This essay examines the ‘infiltration’ of eugenics into Russian medical discourse during the formation of the eugenics movement in western Europe and North America in 1900–17. It describes the efforts of two Russian physicians, the bacteriologist and hygienist Nikolai Gamaleia (1859–1949) and the psychiatrist Tikhon Iudin (1879–1949), to introduce eugenics to the Russian medical community, analysing in detail what attracted these representatives of two different medical specialties to eugenic ideas, ideals, and policies advocated by their western colleagues. On the basis of a close examination of the similarities and differences in Gamaleia’s and Iudin’s attitudes to eugenics, the essay argues that lack of cohesiveness gave the early eugenics movement a unique strength. The loose mix of widely varying ideas, ideals, methods, policies, activities and proposals covered by the umbrella of eugenics offered to a variety of educated professionals in Russia and elsewhere the possibility of choosing, adopting and adapting particular elements to their own national, professional, institutional and disciplinary contexts, interests and agendas. PMID:25498435

[The characteristics of Korea's eugenic movement in the colonial period represented in the bulletin, Woosaeng].

Science.gov (United States)

Shin, Young-Jeon

2006-12-01

Woosaeng, meaning "eugenic" in Korean, was a bulletin published by the Korean Eugenics Association in 1934. With detailed review of the contributors to Woosaeng, its publication background and the contents, the characteristics of Korea's eugenic movement in 1930's and its historical implications of public health are studied. Intellectuals, especially some medical doctors educated abroad, played the pivotal role in publishing Woosaeng and leading the eugenic movement in 1930's. Lee Gabsoo, a medical doctor educated in Germany, is identified as the key person in the whole process. Most of contributors including Lee considered medical science, especially genetics, as the foundation of eugenics and had strong confidence in their belief. A variety of eugenic movements and activities, including enactment of the national eugenic law around the world. was introduced to the Korean society through Woosaeng and it reinforced the eugenic activities in Korea. Although colonial Korea at the time was being heavily imposed with Japan's culture, the eugenic activities were also influenced by Germany and the US through the contributors educated oversea. The overall content and tone of Woosaeng, revealed its 'soft' characteristics, yet it also implied its vulnerability to 'hard' eugenics. Korea's eugenic movement around Woosaeng faces turnover right before 'The Go Fast Imperialism' period. The high class intellectuals tamed by Japanese colonial paradigm in eugenics took the lead and ended up having a significant influence upon the activities around Woosaeng. And even after Koreans' liberation from Japan's annexation, they were able to retain their influence in public health area in the Korean society. In summary, Woosaeng guided us to understand the characteristics of Korea's eugenic movement in 1930's and the historical context of public health in Korea. Moreover, Woosaeng provided a large amount of information about the eugenic movements around the world as well as in Korea. It

The Nazi Physicians as Leaders in Eugenics and "Euthanasia": Lessons for Today.

Science.gov (United States)

Grodin, Michael A; Miller, Erin L; Kelly, Johnathan I

2018-01-01

This article, in commemoration of the 70th anniversary of the Doctors' Trial at Nuremberg, reflects on the Nazi eugenics and "euthanasia" programs and their relevance for today. The Nazi doctors used eugenic ideals to justify sterilizations, child and adult "euthanasia," and, ultimately, genocide. Contemporary euthanasia has experienced a progression from voluntary to nonvoluntary and from passive to active killing. Modern eugenics has included both positive and negative selective activities. The 70th anniversary of the Doctors' Trial at Nuremberg provides an important opportunity to reflect on the implications of the Nazi eugenics and "euthanasia" programs for contemporary health law, bioethics, and human rights. In this article, we will examine the role that health practitioners played in the promotion and implementation of State-sponsored eugenics and "euthanasia" in Nazi Germany, followed by an exploration of contemporary parallels and debates in modern bioethics. 1 .

Confronting the stigma of eugenics: genetics, demography and the problems of population.

Science.gov (United States)

Ramsden, Edmund

2009-12-01

Building upon the work of Thomas Gieryn and Erving Goffman, this paper will explore how the concepts of stigma and boundary work can be usefully applied to history of population science. Having been closely aligned to eugenics in the early 20th century, from the 1930s both demographers and geneticists began to establish a boundary between their own disciplines and eugenic ideology. The eugenics movement responded to this process of stigmatization. Through strategies defined by Goffman as 'disclosure' and 'concealment', stigma was managed, and a limited space for eugenics was retained in science and policy. Yet by the 1960s, a revitalized eugenics movement was bringing leading social and biological scientists together through the study of the genetic demography of characteristics such as intelligence. The success of this programme of 'stigma transformation' resulted from its ability to allow geneticists and demographers to conceive of eugenic improvement in ways that seemed consistent with the ideals of individuality, diversity and liberty. In doing so, it provided them with an alternative, and a challenge, to more radical and controversial programmes to realize an optimal genotype and population. The processes of stigma attribution and management are, however, ongoing, and since the rise of the nature-nurture controversy in the 1970s, the use of eugenics as a 'stigma symbol' has prevailed.

Eugenia e casamento Eugenics and marriage

Directory of Open Access Journals (Sweden)

Luzia Aurelia Castañeda

2003-12-01

Full Text Available Analisaremos algumas estratégias eugênicas para melhoramento da raça baseadas no controle de matrimônios. Para tanto, vamos buscar no contexto da Inglaterra vitoriana a preocupação com o casamento; tanto na obra de Thomas Malthus, quando interessado no crescimento populacional, como na de Francis Galton, quando propõe a eugenia como uma ciência do melhoramento das qualidades inatas da raça. Discutiremos também como tal medida de controle de matrimônios se deu no movimento eugênico brasileiro e sua influência na elaboração do Código Civil.This analysis of some eugenic strategies for "improving the race" through the control of marriages explores Victorian England's concern with matrimony as expressed in the works of Thomas Malthus, who was interested in population growth, and of Francis Galton, who proposed that eugenics be used as a science to "improve" the innate qualities of the race. The article also discusses how this matrimonial means of control was expressed within the Brazilian eugenics movement and how it influenced the drafting of the Brazilian Civil Code.

Donor insemination: eugenic and feminist implications.

Science.gov (United States)

Hanson, F A

2001-09-01

One concern regarding developments in genetics is that, when techniques such as genetic engineering become safe and affordable, people will use them for positive eugenics: to "improve" their offspring by enpowering them with exceptional qualities. Another is whether new reproductive technologies are being used to improve the condition of women or as the tools of a patriarchal system that appropriates female functions to itself and exploits women to further its own ends. Donor insemination is relevant to both of these issues. The degree to which people have used donor insemination in the past for positive eugenic purposes may give some insight into the likelihood of developing technologies being so used in the future. Donor insemination provides women with the opportunity to reproduce with only the most remote involvement of a man. To what degree do women take advantage of this to liberate themselves from male dominance? Through questionnaires and interviews, women who have used donor insemination disclosed their criteria for selecting sperm donors. The results are analyzed for the prevalence of positive eugenic criteria in the selection process and women's attitudes toward minimizing the male role in reproduction.

Science in the Publicity Laboratory: The Case of Eugenics.

Science.gov (United States)

Caudill, Edward

The eugenicists of the 1920s and 1930s aggressively pursued media attention and sought policy change for their cause of improving the human race by selective breeding. Eugenics gained momentum in the United States when the American Eugenics Society (AES) was organized in 1921. Policy formation and information dissemination were central to the…

Huntington's disease: a perplexing neurological disease ...

African Journals Online (AJOL)

Huntington's disease is an inherited intricate brain illness. It is a neurodegenerative, insidious disorder; the onset of the disease is very late to diagnose. It is caused by an expanded CAG repeat in the Huntingtin gene, which encodes an abnormally long polyglutamine repeat in the Huntingtin protein. Huntington's disease ...

Anton's syndrome and eugenics

DEFF Research Database (Denmark)

Kondziella, Daniel; Frahm-Falkenberg, Siska

2011-01-01

to the clinical neurosciences, including pioneering work in neurosurgery, neuropsychology, and child psychiatry. However, it has not been recognized in the English literature that Anton was also a dedicated advocate of eugenics and racial hygiene. This paper provides a case of Anton's syndrome and puts the works...

When Harvard said no to eugenics: the J. Ewing Mears Bequest, 1927.

Science.gov (United States)

Lombardo, Paul A

2014-01-01

James Ewing Mears (1838-1919) was a founding member of the Philadelphia Academy of Surgery. His 1910 book, The Problem of Race Betterment, laid the groundwork for later authors to explore the uses of surgical sterilization as a eugenic measure. Mears left $60,000 in his will to Harvard University to support the teaching of eugenics. Although numerous eugenic activists were on the Harvard faculty, and two of its Presidents were also associated with the eugenics movement, Harvard refused the Mears gift. The bequest was eventually awarded to Jefferson Medical College in Philadelphia. This article explains why Harvard turned its back on a donation that would have supported instruction in a popular subject. Harvard's decision illustrates the range of opinion that existed on the efficacy of eugenic sterilization at the time. The Mears case also highlights a powerful irony: the same week Harvard turned down the Mears legacy, the U.S. Supreme Court endorsed eugenic sterilization in the landmark case of Buck v. Bell. Justice Oliver Wendell Holmes, Jr., graduate of Harvard and former member of its law faculty wrote the opinion in that case, including the famous conclusion: "Three generations of imbeciles are enough."

From nation to family: two careers in the recasting of eugenics.

Science.gov (United States)

Slavishak, Edward

2009-01-01

By examining the professional lives of two popularizers of eugenic thought from the 1910s to the 1940s, this study illustrates the broader change from "mainline" to "reform" eugenics in the United States. Roswell Hill Johnson's university teaching, laboratory research, and later marriage counseling work contrasted greatly with George Seibel's forays into eugenic theater moral reform, and mass physical fitness movements. Yet both men shifted from a strict position of mandating other people's behavior in the name of national health and racial integrity to a more therapeutic stance that cast individual decisions in the context of managed family life. This study shows that for some, the transformation of eugenics in the 1930s meant adapting the traditional focus on superiority, inferiority, and reproduction by design to the language of a commercial marketplace.

Mapping swamp timothy (Cripsis schenoides) seed productivity using spectral values and vegetation indices in managed wetlands

Energy Technology Data Exchange (ETDEWEB)

Rahilly, P.J.A.; Li, D.; Guo, Q.; Zhu, J.; Ortega, R.; Quinn, N.W.T.; Harmon, T.C.

2010-01-15

This work examines the potential to predict the seed productivity of a key wetland plant species using spectral reflectance values and spectral vegetation indices. Specifically, the seed productivity of swamp timothy (Cripsis schenoides) was investigated in two wetland ponds, managed for waterfowl habitat, in California's San Joaquin Valley. Spectral reflectance values were obtained and associated spectral vegetation indices (SVI) calculated from two sets of high resolution aerial images (May 11, 2006 and June 9, 2006) and were compared to the collected vegetation data. Vegetation data were collected and analyzed from 156 plots for total aboveground biomass, total aboveground swamp timothy biomass, and total swamp timothy seed biomass. The SVI investigated included the Simple Ratio (SR), Normalized Difference Vegetation Index (NDVI), Soil Adjusted Vegetation Index (SAVI), Transformed Soil Adjusted Vegetation Index (TSAVI), Modified Soil Adjusted Vegetation Index (MSAVI), and Global Environment Monitoring Index (GEMI). We evaluated the correlation of the various SVI with in situ vegetation measurements for linear, quadratic, exponential and power functions. In all cases, the June image provided better predictive capacity relative to May, a result that underscores the importance of timing imagery to coincide with more favorable vegetation maturity. The north pond with the June image using SR and the exponential function (R{sup 2}=0.603) proved to be the best predictor of swamp timothy seed productivity. The June image for the south pond was less predictive, with TSAVI and the exponential function providing the best correlation (R{sup 2}=0.448). This result was attributed to insufficient vegetal cover in the south pond (or a higher percentage of bare soil) due to poor drainage conditions which resulted in a delay in swamp timothy germination. The results of this work suggest that spectral reflectance can be used to estimate seed productivity in managed seasonal

Eugenics: some lessons from the past.

Science.gov (United States)

Galton, D J

2005-03-01

Eugenics was first debated by the ancient Greeks, particularly Plato and Aristotle, developed in the nineteenth century by Francis Galton and Charles Darwin, and then abused in the twentieth century by right-wing politicians. With the new methods of assisted conception combined with the use of genetic markers, all the old problems of eugenics have resurfaced. Gender selection, embryo selection, preimplantation genetic diagnosis of common disease, and gene replacement techniques (somatic cells) have added greatly to the power of the modern eugenicist. How are these procedures to be monitored and regulated? What is the role of the State compared with individual families for the implementation of the new methodologies? Some of these issues will be discussed.

Huntington's disease : Psychological aspects of predictive testing

NARCIS (Netherlands)

Timman, Reinier

2005-01-01

Predictive testing for Huntington's disease appears to have long lasting psychological effects. The predictive test for Huntington's disease (HD), a hereditary disease of the nervous system, was introduced in the Netherlands in the late eighties. As adverse consequences of the test were

Duty or dream? Edwin G. Conklin's critique of eugenics and support for American individualism.

Science.gov (United States)

Cooke, Kathy J

2002-01-01

This paper assesses ideas about moral and reproductive duty in American eugenics during the early twentieth century. While extreme eugenicists, including Charles Davenport and Paul Popenoe, argued that social leaders and biologists must work to prevent individuals who were "unfit" from reproducing, moderates, especially Edwin G. Conklin, presented a different view. Although he was sympathetic to eugenic goals and participated in eugenic organizations throughout his life, Conklin realized that eugenic ideas rarely could meet strict hereditary measures. Relying on his experience as an embryologist, Conklin instead attempted to balance more extreme eugenic claims - that emphasized the absolute limits posed by heredity - with his own view of "the possibilities of development." Through his critique he argued that most human beings never even begin to approach their hereditary potential; he moderated his own eugenic rhetoric so that it preserved individual opportunity and responsibility, or what has often been labeled the American Dream.

Clinical studies of a purified timothy pollen extract: desensitization therapy with a purified timothy pollen preparation compared to a crude timothy pollen extract. II. Results of the tests in vitro and their relation to symptoms and tests in vivo.

Science.gov (United States)

Nordvall, S L; Berg, T; Johansson, S G; Lanner, A

1982-01-01

Perennial desensitization therapy was given during a period of 3.5 years to 40 children allergic to grass pollen allergens. 20 patients were treated with a crude and another 20 with a purified timothy pollen extract. 8 children served as untreated controls. The concentration of total and specific IgE in the treated groups covaried with those in the control group. Neither a suppression of the seasonal booster effect nor a suppression of IgE synthesis attributable to the treatment was found. The rise of timothy-specific "blocking' IgG antibodies was more pronounced in the group treated with the purified extract than in the group treated with the crude extract. A significant difference was found only after 3.5 years of treatment. The amplitude of rise of IgG antibodies correlated significantly with the effect of the treatment as judged by repeated conjunctival titration test. The results suggest that a good IgG response is an indication of successful therapy and that a better IgG response may be achieved with purified allergen extracts.

The Characteristics of Korea’s Eugenic Movement in the Colonial Period Represented in the Bulletin, Woosaeng

Directory of Open Access Journals (Sweden)

SHIN Young-Jeon

2006-12-01

Full Text Available Woosaeng, meaning "eugenic" in Korean, was a bulletin published by the Korean Eugenics Association in 1934. With detailed review of the contributors to Woosaeng, its publication background and the contents, the characteristics of Korea's eugenic movement in 1930's and its historical implications of public health are studied. Intellectuals, especially some medical doctors educated abroad, played the pivotal role in publishing Woosaeng and leading the eugenic movement in 1930's. Lee Gabsoo, a medical doctor educated in Germany, is identified as the key person in the whole process. Most of contributors including Lee considered medical science, especially genetics, as the foundation of eugenics and had strong confidence in their belief. A variety of eugenic movements and activities, including enactment of the national eugenic law around the world, was introduced to the Korean society through Woosaeng and it reinforced the eugenic activities in Korea. Although colonial Korea at the time was being heavily imposed with Japan's culture, the eugenic activities were also influenced by Germany and the US through the contributors educated oversea. The overall content and tone of Woosaeng, revealed its 'soft' characteristics, yet it also implied its vulnerability to 'hard' eugenics. Korea's eugenic movement around Woosaeng faces turnover right before 'The Go Fast Imperialism' period. The high class intellectuals tamed by Japanese colonial paradigm in eugenics took the lead and ended up having a significant influence upon the activities around Woosaeng. And even after Koreans' liberation from Japan's annexation, they were able to retain their influence in public health area in the Korean society. In summary, Woosaeng guided us to understand the characteristics of Korea's eugenic movement in 1930's and the historical context of public health in Korea. Moreover, Woosaeng provided a large amount of information about the eugenic movements around the world as well

Obituary: Eugene Richard Tomer, 1932-2007

Science.gov (United States)

Dunkl, Charles F.

2009-01-01

Dr. Eugene R. Tomer passed away on 2 July 2007 at his home in San Francisco, California. The cause of death was cancer. Tomer was a consulting applied mathematician with a wide range of interests in dynamical astronomy, electromagnetic theory for use in communications, and computational methods of applied mathematics. He was a member of AAS, and the Society for Applied and Industrial Mathematics [SIAM]. With K. H. Prendergast, he co-wrote the influential paper "Self-consistent Models of Elliptical Galaxies," published in the Astronomical Journal 75 (1970), 674-679. This paper has been cited over eighty times. Tomer was born on 13 June 1932. He earned the Ph.D. in Mathematics at the University of California-Berkeley in 1978 (title of dissertation: On the C*-algebra of the Hermite Operator). In 1996 he and A. F. Peterson wrote "Meeting the Challenges Presented by Computational Electromagnetics," a publication of the Naval Postgraduate School at Monterey, California. This writer met Eugene at the 1992 Annual SIAM meeting in Los Angeles in connection with the Activity Group on Orthogonal Polynomials and Special Functions, which the writer chaired at the time. Eugene volunteered to edit the Newsletter of the group, which he did from July 1992 to July 1995. Thanks to his skills and efforts, the Newsletter became a carefully edited, professional publication. Eugene not only organized a Problems Column, attracting questions in pure and applied mathematics, but he also designed the logo for the group. He gave much time and effort to this service, in an era when copy had to be physically assembled and mailed to SIAM Headquarters. Eventually he felt he had done what he could for the Activity Group. He told me that he hoped the Group would get seriously involved with applications such as in astronomy, physics, and sciences that use special function solutions of differential equations. During Tomer's editorship, we communicated mostly by e-mail, our homes being far apart. He

Identification of genetic variants associated with Huntington's disease progression

DEFF Research Database (Denmark)

Hensman Moss, Davina J; Pardiñas, Antonio F; Langbehn, Douglas

2017-01-01

indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008-11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers...... in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression......BACKGROUND: Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate...

Huntington's disease

DEFF Research Database (Denmark)

Hjermind, Lena Elisabeth; Law, Ian; Jønch, Aia

2011-01-01

In this open-label pilot study, the authors evaluated the effect of memantine on the distribution of brain glucose metabolism in four Huntington's disease (HD) patients as determined by serial 18-fluoro-deoxyglucose [F(18)]FDG-PET scans over a period of 3-4 months (90-129 days, with one patient...

Progressive Impairment of Lactate-based Gluconeogenesis in the Huntington?s Disease Mouse Model R6/2

OpenAIRE

Nielsen, Signe Marie Borch; Hasholt, Lis; N?rrem?lle, Anne; Josefsen, Knud

2015-01-01

Huntington?s disease (HD) is a neurodegenerative illness, where selective neuronal loss in the brain caused by expression of mutant huntingtin protein leads to motor dysfunction and cognitive decline in addition to peripheral metabolic changes. In this study we confirm our previous observation of impairment of lactate-based hepatic gluconeogenesis in the transgenic HD mouse model R6/2 and determine that the defect manifests very early and progresses in severity with disease development, indic...

Sterilization in Finland: from eugenics to contraception.

Science.gov (United States)

Hemminki, E; Rasimus, A; Forssas, E

1997-12-01

The purpose of this paper was to describe the transition of sterilization in Finland from an eugenic tool to a contraceptive. Historical data were drawn from earlier reports in Finnish. Numbers of and reasons for sterilizations since 1950 were collected from nationwide sterilization statistics. Prevalence, characteristics of sterilized women, and women's satisfaction with sterilizations were studied from a 1994 nationwide survey (74% response rate). Logistic regression was used for adjustments. In the first half of the 20th century, eugenic ideology had influence in Finland as in other parts of Europe, and the 1935 and 1950 sterilization laws had an eugenic spirit. Regardless of this, the numbers of eugenic sterilizations remained low, and in practice, family planning was the main reason for sterilization. Nonetheless, prior to 1970 not all sterilizations were freely chosen, because sterilizations were sometimes used as a precondition for abortion. Female sterilizations showed remarkable fluctuation over time. Male sterilizations have been rare. The reasons stipulated by the law did not explain the numbers of sterilizations. In a 1994 survey, 9% of Finnish women reported they were using sterilization as their current contraceptive method (n = 189). Compared to women using other contraceptive methods, sterilized women were older, had had more births and pregnancies, and came from lower social classes. Sterilized women were satisfied with their sterilization, but there were women (8.5%) who regretted it. In conclusion, sterilizations have been and are likely to continue to be an important family planning method in Finland. The extreme gender ratio suggests a need for promoting male sterilizations, and women's expressed regrets suggest consideration of a higher age limit.

Project Coast: eugenics in apartheid South Africa.

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Singh, Jerome Amir

2008-03-01

It is a decade since the exposure of Project Coast, apartheid South Africa's covert chemical and biological warfare program. In that time, attention has been focused on several aspects of the program, particularly the production of narcotics and poisons for use against anti-apartheid activists and the proliferation of both chemical and biological weapons. The eugenic dimension of Project Coast has, by contrast, received scant attention. It is time to revisit the testimony that brought the suggestion of eugenic motives to light, reflect on some of the Truth and Reconciliation Commission's findings and search for lessons that can be taken from this troubled chapter in South Africa's history.

The Testing and Militarization of K-12 Education: Eugenic Assault on Urban School Populations

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Hartlep, Nicholas Daniel

2010-01-01

This paper attempts to discuss eugenics in education and how this eugenic legacy continues to haunt American schooling and nonwhite students. Eugenic praxes and pedagogy continue to proliferate inside the American school systems' teachers may be unaware that they are teaching in such a way that maintains this ethos. This paper and seminar's…

The Emergence of Genetic Counseling in Sweden: Examples from Eugenics and Medical Genetics.

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Björkman, Maria

2015-09-01

This paper examines the intertwined relations between eugenics and medical genetics from a Swedish perspective in the 1940s and 1950s. The Swedish case shows that a rudimentary form of genetic counseling emerged within eugenic practices in the applications of the Swedish Sterilization Act of 1941, here analyzed from the phenomenon of "heredophobia" (ärftlighetsskräck). At the same time genetic counseling also existed outside eugenic practices, within the discipline of medical genetics. The paper argues that a demand for genetic counseling increased in the 1940s and 1950s in response to a sense of reproductive responsibility engendered by earlier eugenic discourse. The paper also questions the claim made by theoreticians of biopolitics that biological citizens have emerged only during the last decades, especially in neoliberal societies. From the Swedish case it is possible to argue that this had already happened earlier in relation to the proliferation of various aspects of eugenics to the public.

EUGENICS, THE GIRARDIAN THEORY OF SACRIFICE, AND THE NEW DARWINIAN ETHICS

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THOMAS RYBA

2011-11-01

Full Text Available In this paper I argue that, though many ethical systems recognizesacrifice as moral action, the utilitarian appropriation of Neo-Darwinian theory especially as it justifies eugenics as a “winnowing of the human stock” is in Girardian terms analogous to the sacrificial scapegoating of innocents. This argument is accomplished in four steps. (1 I show that within some ethical systems sacrifice is recognized as moral behavior driven by a specific axiology (or theory of value (2 I discuss some of the meta-ethical problems connected with Neo-Darwinian naturalism and naturalism, in general. (3 I show how modern varieties of naturalism and Darwinian naturalism, inparticular are especially inclined to lead to a moral justification of eugenic scapegoating and how Girardian theory is helpful in identifying the moral disorder connected with eugenics. (4 Finally, I conclude by arguing that Darwin’s thought is susceptible to another kind of interpretation, one that need not lead to the valorization of eugenics.

Posthumous Pardons, the Home Office and the Timothy Evans Case

OpenAIRE

Rubin, Gerry

2007-01-01

Examines the legal issues surrounding the exercise of the prerogative of mercy to grant posthumous pardons either to those convicted of a capital offence or those executed for offences under military law, specifically during the First World War. Focuses on the policy considerations leading to the Home Secretary’s decision to recommend the grant of a posthumous pardon for Timothy Evans in 1966.

Eugenics, sexual pedagogy and social change: constructing the responsible subject of governmentality in the Spanish Second Republic.

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Jiménez-Alonso, Belén

2008-06-01

This study focuses on eugenics in Spain, and more specifically on the 'official' eugenics whose platform was the Primeras Jornadas Eugénicas Españolas (First Spanish Eugenic Days, FSED). The aim of this paper is to relate eugenics to 'governmentality' rather than to State politics alone and to 'Latin eugenics' rather than to 'mainline eugenics'. On the one hand, the FSED were largely centred on the development of a new sexual code which would set Catholic sexual morality aside. For this reason, sexual pedagogy was one of the most relevant topics during the FSED, personal responsibility becoming the first step to social change. The concern about making people play an active role in their own self-regulation is typical of governmentality. The latter refers to societies where power is decentered and where the objective is to structure the field of action of others (the conduct of conduct). On the other hand, the FSED emphasised preventive eugenics such as welfare programmes and health campaigns rather than negative eugenics such as the sterilisation of the unfit. The situation in Spain was mirrored in countries such as Brazil, Argentina and Mexico, which allows us to think about them in terms of 'Latin eugenics' rather than 'mainline eugenics' from countries such as Great Britain, Germany and the USA.

Science and Society in the Eugenic Thought of H. J. Muller

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Allen, Garland E.

1970-01-01

Traces the growth of theories of eugenics during the twentieth century, focussing on the work of H. J. Muller. Concludes that "Muller's lasting contribution was to write the hereditarian attitudes associated with traditional eugenics and the environmentalist's viewpoint associated with modern sociology to obtain a humane and reasoned approach to…

Learning about Huntington's Disease

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Skip to main content Learning About Huntington's Disease Enter Search Term(s): Español Research Funding An Overview Bioinformatics Current Grants Education and Training Funding Extramural Research ...

Eugenics and education: Implications of ideology, memory, and history for education in the United States

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Winfield, Ann Gibson

Eugenics has been variously described "as an ideal, as a doctrine, as a science (applied human genetics), as a set of practices (ranging from birth control to euthanasia), and as a social movement" (Paul 1998 p. 95). "Race Suicide" (Roosevelt 1905) and the ensuing national phobia regarding the "children of worm eaten stock" (Bobbitt 1909) prefaced an era of eugenic ideology whose influence on education has been largely ignored until recently. Using the concept of collective memory, I examine the eugenics movement, its progressive context, and its influence on the aims, policy and practice of education. Specifically, this study examines the ideology of eugenics as a specific category and set of distinctions, and the role of collective memory in providing the mechanism whereby eugenic ideology may shape and fashion interpretation and action in current educational practice. The formation of education as a distinct academic discipline, the eugenics movement, and the Progressive era coalesced during the first decades of the twentieth century to form what has turned out to be a lasting alliance. This alliance has had a profound impact on public perception of the role of schools, how students are classified and sorted, degrees and definitions of intelligence, attitudes and beliefs surrounding multiculturalism and a host of heretofore unexplored ramifications. My research is primarily historical and theoretical and uses those material and media cultural artifacts generated by the eugenics movement to explore the relationship between eugenic ideology and the institution of education.

Changes in mental state and behaviour in Huntington's disease.

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Eddy, Clare M; Parkinson, Ellice G; Rickards, Hugh E

2016-11-01

Changes in mental state and behaviour have been acknowledged in Huntington's disease since the original monograph in 1872 provided evidence of disinhibition and impaired social cognition. Behavioural problems can manifest before obvious motor symptoms and are frequently the most disabling part of the illness. Although pharmacological treatments are used routinely for psychiatric difficulties in Huntington's disease, the scientific evidence base for their use is somewhat sparse. Moreover, effective treatments for apathy and cognitive decline do not currently exist. Understanding the social cognitive impairments associated with Huntington's disease can assist management, but related therapeutic interventions are needed. Future research should aim to design rating scales for behaviour and mental state in Huntington's disease that can detect change in clinical trials. Generally, communication and understanding of behaviour and mental state in Huntington's would be enhanced by a clear conceptual framework that unifies ideas around movement, cognition, emotion, behaviour, and mental state, reflecting both the experience of the patient and their underlying neuropathology. Copyright © 2016 Elsevier Ltd. All rights reserved.

Eugenics--a side effect of progressivism? analysis of the role of scientific and medical elites in the rise and fall of eugenics in pre-war Poland.

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Blach, Olga

2010-06-01

The eminent geneticist, Benno Muller-Hill, described eugenics as"explosive mixture between something we might call hard science, that is, human genetics, and the sphere of political action. On the one hand, geneticists needed politicians to implement their ideas. On the other hand, Hitler and the Nazis needed scientists who could say that anti-Semitism has scientific theoretical foundations." For some Polish eugenicists, the Third Reich was not the home of the Nuremberg Laws, but a country that "boldly embarked on racial hygiene." This enthusiastic attitude of Polish intellectual circles towards Nazi eugenic laws was characteristic of the status of pre-war science in Poland, which in many areas, such as anthropology and psychiatry, remained strongly influenced by the paradigm of German science. While the professional and scientific context of the day promoted eugenic and racist ideas within the framework of the academic milieu and the curriculum of the medical and scientific community, eugenicists in Poland tended to refrain from anti-Semitic and racist phraseology. Indeed, the Polish eugenic movement was class- rather than race-orientated. The hybrid language of eugenics, combining social sensitivity with repulsion and contempt for the sick and the weak, illustrated the ambiguous stance of the Polish eugenicists on politics and science in Nazi Germany, for the Third Reich provided the German eugenicists with what had always been an unfulfilled dream to the Polish eugenicists--political power and the ability to implement their ideas.

Emancipation through interaction--how eugenics and statistics converged and diverged.

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Louçã, Francisco

2009-01-01

The paper discusses the scope and influence of eugenics in defining the scientific programme of statistics and the impact of the evolution of biology on social scientists. It argues that eugenics was instrumental in providing a bridge between sciences, and therefore created both the impulse and the institutions necessary for the birth of modern statistics in its applications first to biology and then to the social sciences. Looking at the question from the point of view of the history of statistics and the social sciences, and mostly concentrating on evidence from the British debates, the paper discusses how these disciplines became emancipated from eugenics precisely because of the inspiration of biology. It also relates how social scientists were fascinated and perplexed by the innovations taking place in statistical theory and practice.

A Metabolic Study of Huntington's Disease.

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Rajasree Nambron

Full Text Available Huntington's disease patients have a number of peripheral manifestations suggestive of metabolic and endocrine abnormalities. We, therefore, investigated a number of metabolic factors in a 24-hour study of Huntington's disease gene carriers (premanifest and moderate stage II/III and controls.Control (n = 15, premanifest (n = 14 and stage II/III (n = 13 participants were studied with blood sampling over a 24-hour period. A battery of clinical tests including neurological rating and function scales were performed. Visceral and subcutaneous adipose distribution was measured using magnetic resonance imaging. We quantified fasting baseline concentrations of glucose, insulin, cholesterol, triglycerides, lipoprotein (a, fatty acids, amino acids, lactate and osteokines. Leptin and ghrelin were quantified in fasting samples and after a standardised meal. We assessed glucose, insulin, growth hormone and cortisol concentrations during a prolonged oral glucose tolerance test.We found no highly significant differences in carbohydrate, protein or lipid metabolism markers between healthy controls, premanifest and stage II/III Huntington's disease subjects. For some markers (osteoprotegerin, tyrosine, lysine, phenylalanine and arginine there is a suggestion (p values between 0.02 and 0.05 that levels are higher in patients with premanifest HD, but not moderate HD. However, given the large number of statistical tests performed interpretation of these findings must be cautious.Contrary to previous studies that showed altered levels of metabolic markers in patients with Huntington's disease, our study did not demonstrate convincing evidence of abnormalities in any of the markers examined. Our analyses were restricted to Huntington's disease patients not taking neuroleptics, anti-depressants or other medication affecting metabolic pathways. Even with the modest sample sizes studied, the lack of highly significant results, despite many being tested, suggests that

O desenvolvimento político em Huntington e Fukuyama Huntington and Fukuyama on political development

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Natália Nóbrega de Mello

2010-01-01

Full Text Available O artigo contrasta as teses de Huntington e Fukuyama sobre desenvolvimento político. As obras analisadas, Ordem política nas sociedades em mudança e O fim da história, inscrevem-se entre duas conjunturas decisivas - 1968 e 1989. Huntington desmontou a equivalência entre desenvolvimento político e modernização e Fukuyama reafirmou a democracia como o destino de todos os países e, desse modo, como o fim da história. Nesta comparação, dois eixos se sobressaem: o contexto de produção das obras e a alternância entre os polos teóricos da democracia e da estabilidade. Procura-se demonstrar como, apesar de reinserir a democracia no desenvolvimento político, a instabilidade continua a ser um foco privilegiado de análise no pensamento de Fukuyama.The article contrasts the theories of Huntington and Fukuyama on political development. The analyzed works, Political order in changing societies and The end of history, fall between two decisive historical moments - in 1968 and 1989. Huntington disassembled the equivalence between political development and modernization; Fukuyama reaffirmed democracy as the destiny of all countries and, as such, it is the end of history. In this comparison, two axes call our attention: the production context of these works and the alternation between the theoreticals poles of democracy and stability. The article shows how, although reenters democracy in the political development theory, instablility remains a prime focus of analysis in Fukuyama's thought.

The sex reform movement and eugenics in interwar Poland.

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Gawin, Magdalena

2008-06-01

This paper focuses on the relations between a liberal group of sex reformers, consisting of writers and literary critics, and physicians from the Polish Eugenics Society in interwar Poland. It illustrates the paradoxes of the mutual co-operation between these two groups during the 1930s and analyses the reason why compulsory sterilisation was rejected by politicians. From the early 1930s two movements began to forge an alliance in Poland: the sexual reform movement which advocated freedom of the individual, and eugenics, which called for limiting the freedom of the individual for the collective good. This paper draws attention to several issues which emerged as part of this collaboration: population politics, the relationship between reformers, eugenicists and state institutions, and the question of how both movements--eugenics and sexual reform--perceived the question of sexuality, birth control and abortion. It will also focus on those aspects of their thinking that led to mutual co-operation.

IgE-binding capacity of recombinant timothy grass (Phleum pratense) pollen allergens

NARCIS (Netherlands)

Laffer, S.; Vrtala, S.; Duchêne, M.; van Ree, R.; Kraft, D.; Scheiner, O.; Valenta, R.

1994-01-01

A panel of 60 cDNA clones coding for IgE-binding proteins from timothy grass pollen was immunocharacterized with sera from 30 patients allergic to grass pollen and antibodies raised against natural grass pollen allergens. In the cases of five representative patients in whom the IgE reactivity

A Canadian paradox: Tommy Douglas and eugenics.

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Shevell, Michael

2012-01-01

Tommy Douglas is an icon of Canadian 20th Century political history and is considered by many as the "Father" of Medicare, a key component of our national identity. Throughout his career, he was associated at both the provincial and federal levels with progressive causes concerning disadvantaged populations. In his sociology Master's thesis written in the early 1930's, Douglas endorsed eugenic oriented solutions such as segregation and sterilization to address what was perceived to be an endemic and biologically determined problem. At first glance, this endorsement of eugenics appears to be paradoxical, but careful analysis revealed that this paradox has multiple roots in religion, political belief, historical exposure and our own desire to view our collective history in a favourable light.

The master potter and the rejected pots: eugenic legislation in Victoria, 1918-1939.

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Jones, R L

1999-01-01

In the period since Carol Bacchi introduced eugenics into Australian historiography in 1980, much has been written that has increased our understanding of the role eugenics played in the development of Australian society in the first half of this century. It is now generally recognised that eugenics developed after the first world war from a relatively simplistic scientific justification of racist and class-biased social Darwinism into a movement concerned with using environmental reforms to help a wide range of Australians reach their full potential. In the interwar years the reform eugenicists (as they have been named) were active in a wide range of environmental movements including health reforms, slum clearance and educational improvements. The corollary of reform eugenics was based on the belief that heredity was an impassable obstacle for some: mental deficients were not considered to be racially 'fit' or 'efficient' enough to benefit from the reforms. Whilst this side of reform eugenics is well known in other countries (sterilisation programmes in Germany, the United States and Scandinavia being examples), it is yet to receive much attention so far in the discussion about Australia in the interwar years. This article argues that the attempt of a group of influential reform eugenicists in Victoria in the interwar years to institute legislation aimed at denying a significant proportion of the population the most basic rights of citizenship (including the right to reproduce) redresses the imbalance in our understanding of reform eugenics in the interwar years.

From 'beastly philosophy' to medical genetics: eugenics in Russia and the Soviet Union.

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Krementsov, Nikolai

2011-01-01

This essay offers an overview of the three distinct periods in the development of Russian eugenics: Imperial (1900-1917), Bolshevik (1917-1929), and Stalinist (1930-1939). Began during the Imperial era as a particular discourse on the issues of human heredity, diversity, and evolution, in the early years of the Bolshevik rule eugenics was quickly institutionalized as a scientific discipline--complete with societies, research establishments, and periodicals--that aspired an extensive grassroots following, generated lively public debates, and exerted considerable influence on a range of medical, public health, and social policies. In the late 1920s, in the wake of Joseph Stalin's 'Great Break', eugenics came under intense critique as a 'bourgeois' science and its proponents quickly reconstituted their enterprise as 'medical genetics'. Yet, after a brief period of rapid growth during the early 1930s, medical genetics was dismantled as a 'fascist science' towards the end of the decade. Based on published and original research, this essay examines the factors that account for such an unusual--as compared to the development of eugenics in other locales during the same period--historical trajectory of Russian eugenics.

R. A. Fisher: a faith fit for eugenics.

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Moore, James

2007-03-01

In discussions of 'religion-and-science', faith is usually emphasized more than works, scientists' beliefs more than their deeds. By reversing the priority, a lingering puzzle in the life of Ronald Aylmer Fisher (1890-1962), statistician, eugenicist and founder of the neo-Darwinian synthesis, can be solved. Scholars have struggled to find coherence in Fisher's simultaneous commitment to Darwinism, Anglican Christianity and eugenics. The problem is addressed by asking what practical mode of faith or faithful mode of practice lent unity to his life? Families, it is argued, with their myriad practical, emotional and intellectual challenges, rendered a mathematically-based eugenic Darwinian Christianity not just possible for Fisher, but vital.

Sterilization and birth control in the shadow of eugenics: married, middle-class women in Alberta, 1930-1960s.

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Dyck, Erika

2014-01-01

The history of eugenic sterilization connotes draconian images of coerced and involuntary procedures robbing men and women of their reproductive health. While eugenics programs often fit this characterization, there is another, smaller, and less obvious legacy of eugenics that arguably contributed to a more empowering image of reproductive health. Sexual sterilization surgeries as a form of contraception began to gather momentum alongside eugenics programs in the middle of the 20th century and experiences among prairie women serve as an illustrative example. Alberta maintained its eugenics program from 1929 to 1972 and engaged in thousands of eugenic sterilizations, but by the 1940s middle-class married women pressured their Albertan physicians to provide them with sterilization surgeries to control fertility, as a matter of choice. The multiple meanings and motivations behind this surgery introduced a moral quandary for physicians, which encourages medical historians to revisit the history of eugenics and its relationship to the contemporaneous birth control movement.

Mapping energy poverty in Huntington, West Virginia

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Callicoat, Elizabeth Anne

Energy poverty is a growing phenomenon culminating from the combination of low to mid household income, deteriorating housing structures and rising household energy costs. Energy prices are increasing for all households, but the burden is proportionally larger for those with low to mid income. These groups must sacrifice to afford energy, and are often unable or do not have the autonomy to make structural improvements, especially if they rent their home. Data on residential dwellings from the Cabell County Tax Assessor's Office was used within a geographic information system to map where energy poverty likely exists within the city limits of Huntington, WV. It was found that one fifth of Huntington households are at a high risk of energy poverty, primarily located across the northern section of the city and in the center, surrounding Marshall University, Downtown and Cabell Huntington Hospital.

Resistance in School and Society: Public and Pedagogical Debates about Eugenics, 1900-1947.

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Selden, Steven

1988-01-01

This article reviews positions of scientists, educators and publicists who resisted eugenics and determinism. The nature nurture controversy is discussed, as well as the impact of eugenics on American classrooms. Specific attention is given to four resisters: Dewey, Bagley, Jennings, and Lippmann. (IAH)

A Child's Right to Be Well Born: Venereal Disease and the Eugenic Marriage Laws, 1913-1935.

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Lombardo, Paul A

2017-01-01

An extensive literature describes the legal impact of America's eugenics movement, and the laws mandating sterilization, restriction of marriage by race, and ethnic bans on immigration. But little scholarship focuses on the laws adopted in more than 40 states that were commonly referred to as "eugenic marriage laws." Those laws conditioned marriage licenses on medical examinations and were designed to save innocent women from lives of misery, prevent stillbirth or premature death in children, and save future generations from the myriad afflictions that accompanied "venereal infection." Medical journals, legal journals, and every kind of public press outlet explained the "eugenic marriage laws" and the controversies they spawned. They were inextricably bound up in reform movements that attempted to eradicate prostitution, stamp out STIs, and reform America's sexual mores in the first third of the 20th century. This article will explain the pedigree of the eugenic marriage laws, highlight the trajectory of Wisconsin's 1913 eugenic enactment, and explore how the Wisconsin Supreme Court case upholding the law paved the way for the majority of states to regulate marriage on eugenic grounds.

Disease stage, but not sex, predicts depression and psychological distress in Huntington's disease

DEFF Research Database (Denmark)

Dale, Maria; Maltby, John; Shimozaki, Steve

2016-01-01

OBJECTIVE: Depression and anxiety significantly affect morbidity in Huntington's disease. Mice. models of Huntington's disease have identified sex differences in mood-like behaviours that vary across disease lifespan, but this interaction has not previously been explored in humans with Huntington......'s disease. However, among certain medical populations, evidence of sex differences in mood across various disease stages has been found, reflecting trends among the general population that women tend to experience anxiety and depression 1.5 to 2 times more than men. The current study examined whether...... disease stage and sex, either separately or as an interaction term, predicted anxiety and depression in Huntington's disease. METHODS: A cross-sectional study of REGISTRY data involving 453 Huntington's disease participants from 12 European countries was undertaken using the Hospital Anxiety...

Huntington disease: a case study of early onset presenting as depression.

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Duesterhus, Pia; Schimmelmann, Benno Graf; Wittkugel, Oliver; Schulte-Markwort, Michael

2004-10-01

Huntington disease is a dominantly inherited, neurodegenerative disease characterized by choreiform movement disturbances and dementia, usually with adult onset. The rare juvenile-onset Huntington disease differs from the adult phenotype. A case presenting twice, at age 10 with all the signs of a major depression and age 14 with mutism and rigidity, is reported. Meanwhile, the father developed the adult variant of Huntington disease. The boy's diagnosis was confirmed by molecular genetic analysis and magnetic resonance imaging. It is important to be aware of hereditary conditions such as Huntington disease and to provide family counseling before genetic testing and after the diagnosis is confirmed.

When the time seems ripe: eugenics, the annals, and the subtle persistence of typological thinking.

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Weiss, Kenneth M; Lambert, Brian W

2011-05-01

This journal began in 1925 as the Annals of Eugenics. Much has changed since then. The original Editors' primary eugenic objective was not achieved, and eugenics justifiably became notorious for racism and gross abuse of human rights. But one founding aim was to publish advances in statistical genetics, and that objective prospered in the journal's pages from its beginning to the present day. The online availability of the original issues will be useful to those interested in the history of both eugenics and human genetics and will provide a reminder of how the careless use of genetical concepts can go astray. © 2010 The Authors Annals of Human Genetics © 2010 Blackwell Publishing Ltd/University College London.

Factor analysis of the hospital anxiety and depression scale among a Huntington's disease population

DEFF Research Database (Denmark)

Dale, Maria; Maltby, John; Martucci, Rossana

2015-01-01

INTRODUCTION: Depression and anxiety are common in Huntington's disease, a genetic neurodegenerative disorder. There is a need for measurement tools of mood to be validated within a Huntington's disease population. The current study aimed to analyze the factor structure of the Hospital Anxiety...... and Depression Scale in Huntington's disease. METHODS: Data from the European Huntington's Disease Network study REGISTRY 3 were used to undertake a factor analysis of the scale among a sample of 492 Huntington's disease mutation carriers. The sample was randomly divided into two equal subsamples...... support for an eight-item version of the scale to be used as a measure of general distress within Huntington's disease populations. © 2015 International Parkinson and Movement Disorder Society....

Eugenics from the New Deal to the Great Society: genetics, demography and population quality.

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Ramsden, Edmund

2008-12-01

The relationship between biological and social scientists as regards the study of human traits and behavior has often been perceived in terms of mutual distrust, even antipathy. In the interwar period, population study seemed an area that might allow for closer relations between them-united as they were by a concern to improve the eugenic quality of populations. Yet these relations were in tension: by the early post-war era, social demographers were denigrating the contributions of biologists to the study of population problems as embodying the elitist ideology of eugenics. In response to this loss of credibility, the eugenics movement pursued a simultaneous program of withdrawal and expansion: its leaders helped focus concern with biological quality onto the developing field of medical genetics, while at the same moment, extended their scope to improving the social quality of populations through birth control policies, guided by demography. While this approach maintained boundaries between the social and the biological, in the 1960s, a revitalized American Eugenics Society helped reunite leading demographers and geneticists. This paper will assess the reasons for this period of influence for eugenics, and explore its implications for the social and biological study of human populations.

PSYCHIATRIC ASPECTS OF HUNTINGTON DISEASE – CASE REPORTS

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Mirela Batta

2004-04-01

Full Text Available Background. Huntington disease occurrs rarely, it can be encountered not only by neurologists and psychiatrists but also by other medical practitioners. Its characteristic features are involuntary movements, cognitive disorders and gradual development of dementia. Diagnosis is given on the basis of these clinical features, positive familial anamnesis, with the laboratory exclusion of other neuropsychiatric diseases and with the help of neuroimaging methods (in particular NMR. The disease can be only confirmed by means of genetic analysis.Patients and methods. In this article, four cases of patients with Huntington disease and diverse psychiatric disorders that were hospitalised at the psychiatric department of the Maribor General Hospital between October 2002 and March 2003 are described. All the patients fulfilled the valid criteria for the diagnosis of Huntington disease. However, they differed according to their accompanying psychiatric psychopathology, age and social problems.Conclusions. The purpose of this article is to draw attention to different psychiatric symptoms and clinical manifestations of Huntington disease that are often misleading in the diagnostic process. In addition, exigency of early diagnostics, guidelines for referrals to genetic testing and psychiatric monitoring of these patients are emphasised.

Semantic, phonologic, and verb fluency in Huntington's disease

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Mariana Jardim Azambuja

Full Text Available Abstract Verbal fluency tasks have been identified as important indicators of executive functioning impairment in patients with frontal lobe dysfunction. Although the usual evaluation of this ability considers phonologic and semantic criteria, there is some evidence that fluency of verbs would be more sensitive in disclosing frontostriatal physiopathology since frontal regions primarily mediate retrieval of verbs. Huntington's disease usually affects these circuitries. Objective: To compare three types of verbal fluency task in the assessment of frontal-striatal dysfunction in HD subjects. Methods: We studied 26 Huntington's disease subjects, divided into two subgroups: mild (11 and moderate (15 along with 26 normal volunteers matched for age, gender and schooling, for three types of verbal fluency: phonologic fluency (F-A-S, semantic fluency and fluency of verbs. Results: Huntington's disease subjects showed a significant reduction in the number of words correctly generated in the three tasks when compared to the normal group. Both controls and Huntington's disease subjects showed a similar pattern of decreasing task performance with the greatest number of words being generated by semantic elicitation followed by verbs and lastly phonologic criteria. We did not find greater production of verbs compared with F-A-S and semantic conditions. Moreover, the fluency of verbs distinguished only the moderate group from controls. Conclusion: Our results indicated that phonologic and semantic fluency can be used to evaluate executive functioning, proving more sensitive than verb fluency. However, it is important to point out that the diverse presentations of Huntington's disease means that an extended sample is necessary for more consistent analysis of this issue.

Major Superficial White Matter Abnormalities in Huntington's Disease

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Phillips, Owen R.; Joshi, Shantanu H.; Squitieri, Ferdinando; Sanchez-Castaneda, Cristina; Narr, Katherine; Shattuck, David W.; Caltagirone, Carlo; Sabatini, Umberto; Di Paola, Margherita

2016-01-01

Background: The late myelinating superficial white matter at the juncture of the cortical gray and white matter comprising the intracortical myelin and short-range association fibers has not received attention in Huntington's disease. It is an area of the brain that is late myelinating and is sensitive to both normal aging and neurodegenerative disease effects. Therefore, it may be sensitive to Huntington's disease processes. Methods: Structural MRI data from 25 Pre-symptomatic subjects, 24 Huntington's disease patients and 49 healthy controls was run through a cortical pattern-matching program. The surface corresponding to the white matter directly below the cortical gray matter was then extracted. Individual subject's Diffusion Tensor Imaging (DTI) data was aligned to their structural MRI data. Diffusivity values along the white matter surface were then sampled at each vertex point. DTI measures with high spatial resolution across the superficial white matter surface were then analyzed with the General Linear Model to test for the effects of disease. Results: There was an overall increase in the axial and radial diffusivity across much of the superficial white matter (p < 0.001) in Pre-symptomatic subjects compared to controls. In Huntington's disease patients increased diffusivity covered essentially the whole brain (p < 0.001). Changes are correlated with genotype (CAG repeat number) and disease burden (p < 0.001). Conclusions: This study showed broad abnormalities in superficial white matter even before symptoms are present in Huntington's disease. Since, the superficial white matter has a unique microstructure and function these abnormalities suggest it plays an important role in the disease. PMID:27242403

[Eugenics: morality or pragmatism].

Science.gov (United States)

Gómez Fröde, Carina

2013-01-01

The subject of eugenics is as old as humanity itself, but since World War II it has been related almost automatically with the policies and practices implemented by the National Socialist regime. This happened despite the fact that these despicable practices were inspired by legislation in place in the United Sates since the 19th century and which, in some cases, were modified until the 1970's. Today, some state governments are still paying compensation to victims of these policies.

Did the "Woman in the Attic" in Jane Eyre Have Huntington Disease?

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Coon, Elizabeth A; Hassan, Anhar

2015-01-01

References to neurologic disorders are frequently found in fictional literature and may precede description in the medical literature. Our aim was to compare Charlotte Brontë's depiction of Bertha Mason in Jane Eyre to the tenets set forth in George Huntington's original essay "On chorea" with the hypothesis that Mason was displaying features of Huntington disease. Charlotte Brontë's 1847 Victorian novel Jane Eyre features the character Bertha Mason, who is portrayed with a progressive psychiatric illness, violent movements, and possible cognitive decline. Similar to Huntington's tenets, Mason has a disorder with a strong family history suggestive of autosomal dominant inheritance with onset in adulthood, and culminating in suicide. Brontë's character had features of Huntington disease as originally described by Huntington. Brontë's keen characterization may have increased awareness of treatment of neuropsychiatric patients in the Victorian era.

Discrepancies in reporting the CAG repeat lengths for Huntington's disease

DEFF Research Database (Denmark)

Quarrell, Oliver W; Handley, Olivia; O'Donovan, Kirsty

2011-01-01

Huntington's disease results from a CAG repeat expansion within the Huntingtin gene; this is measured routinely in diagnostic laboratories. The European Huntington's Disease Network REGISTRY project centrally measures CAG repeat lengths on fresh samples; these were compared with the original...

Eugene Jolas: A Poet of Multilingualism

Science.gov (United States)

Kelbert, Eugenia

2015-01-01

Eugene Jolas, the first-time publisher of James Joyce's Finnegans Wake (1939 / 2012), started his career as a translingual journalist and poet. A French-German bilingual, Jolas acquired English in adolescence, crossing the Atlantic to refashion himself as an American man of letters. A "Man from Babel," as he styles himself in his…

Eugen Rosenstock-Huessy--An Andragogical Pioneer

Science.gov (United States)

Loeng, Svein

2013-01-01

Eugen Rosenstock-Huessy's work related to andragogy is insufficiently discussed in adult pedagogical literature, although most of his work deals with this field, if we employ his own definition of andragogy. This paper makes visible his role as an andragogical pioneer, and clarifies his understanding of andragogy and basic perspectives in his…

Eugenics for the doctors: medicine and social control in 1930s Turkey.

Science.gov (United States)

Salgirli, Sanem Güvenç

2011-07-01

This article aims to add a new dimension to the analysis of the relationship between medicine and eugenics via a discussion of the community of Turkish physicians in the period between the two World Wars. It argues that even though the relationship between the two fields has been discussed before in terms of the professional ideology of doctors, the medical community itself has not come under scrutiny by scholars. It is the purpose of this article to show eugenics as the main unifying edifice of that community and argue that eugenics is to be found in the patterns of social reproduction of the doctors as part of the professional middle class in addition to being those who transfer knowledge of medicine. As can be seen in Turkey in the 1930s, the doctors, in their efforts to construct themselves as the pioneers of modern scientific medicine, as well as the new ruling class of the country, used eugenics extensively both as a means of self-identification, and as a way to build a professional class "fit" to rule the country. © The Author 2010. Published by Oxford University Press. All rights reserved.

aliving with Huntington´s disease in the Czech Republic

Czech Academy of Sciences Publication Activity Database

Baxa, Monika

2015-01-01

Roč. 78, Suppl 2 (2015), s. 6-6 ISSN 1210-7859. [Conference on Animal Models for neurodegenerative Diseases /3./. 08.11.2015-10.11.2015, Liblice] Institutional support: RVO:67985904 Keywords : Czech Huntington Association * life with Huntington ´ disease Subject RIV: FH - Neurology

Altered brain mechanisms of emotion processing in pre-manifest Huntington's disease.

Science.gov (United States)

Novak, Marianne J U; Warren, Jason D; Henley, Susie M D; Draganski, Bogdan; Frackowiak, Richard S; Tabrizi, Sarah J

2012-04-01

Huntington's disease is an inherited neurodegenerative disease that causes motor, cognitive and psychiatric impairment, including an early decline in ability to recognize emotional states in others. The pathophysiology underlying the earliest manifestations of the disease is not fully understood; the objective of our study was to clarify this. We used functional magnetic resonance imaging to investigate changes in brain mechanisms of emotion recognition in pre-manifest carriers of the abnormal Huntington's disease gene (subjects with pre-manifest Huntington's disease): 16 subjects with pre-manifest Huntington's disease and 14 control subjects underwent 1.5 tesla magnetic resonance scanning while viewing pictures of facial expressions from the Ekman and Friesen series. Disgust, anger and happiness were chosen as emotions of interest. Disgust is the emotion in which recognition deficits have most commonly been detected in Huntington's disease; anger is the emotion in which impaired recognition was detected in the largest behavioural study of emotion recognition in pre-manifest Huntington's disease to date; and happiness is a positive emotion to contrast with disgust and anger. Ekman facial expressions were also used to quantify emotion recognition accuracy outside the scanner and structural magnetic resonance imaging with voxel-based morphometry was used to assess the relationship between emotion recognition accuracy and regional grey matter volume. Emotion processing in pre-manifest Huntington's disease was associated with reduced neural activity for all three emotions in partially separable functional networks. Furthermore, the Huntington's disease-associated modulation of disgust and happiness processing was negatively correlated with genetic markers of pre-manifest disease progression in distributed, largely extrastriatal networks. The modulated disgust network included insulae, cingulate cortices, pre- and postcentral gyri, precunei, cunei, bilateral putamena

Psychiatric symptoms and CAG expansion in Huntington`s disease

Energy Technology Data Exchange (ETDEWEB)

Weber, M.W.; Schmid, W.; Spiegel, R. [Univ. of Zuerich (Switzerland)

1996-02-16

The mutation responsible for Huntington`s disease (HD) is an elongated CAG repeat in the coding region of the IT15 gene. A PCR-based test with high sensitivity and accuracy is now available to identify asymptomatic gene carriers and patients. An inverse correlation between CAG copy number and age at disease onset has been found in a large number of affected individuals. The influence of the CAG repeat expansion on other phenotypic manifestations, especially specific psychiatric symptoms has not been studied intensively. In order to elucidate this situation we investigated the relation between CAG copy number and distinct psychiatric phenotypes found in 79 HD-patients. None of the four differentiated categories (personality change, psychosis, depression, and nonspecific alterations) showed significant differences in respect to size of the CAG expansion. In addition, no influence of individual sex on psychiatric presentation could be found. On the other hand in patients with personality changes maternal transmission was significantly more frequent compared with all other groups. Therefore we suggest that clinical severity of psychiatric features in HD is not directly dependent on the size of the dynamic mutation involved. The complex pathogenetic mechanisms leading to psychiatric alterations are still unknown and thus genotyping does not provide information about expected psychiatric symptoms in HD gene carriers. 40 refs., 1 fig., 2 tabs.

A Cabinet of Mathematical Curiosities at Teachers College: David Eugene Smith's Collection

Science.gov (United States)

Murray, Diane R.

2012-01-01

This dissertation is a history of David Eugene Smith's collection of historical books, manuscripts, portraits, and instruments related to mathematics. The study analyzes surviving documents, images, objects, college announcements and catalogs, and secondary sources related to Smith's collection. David Eugene Smith (1860-1944) travelled…

77 FR 35366 - Albany-Eugene Transmission Line Rebuild Project

Science.gov (United States)

2012-06-13

... materials, removing vegetation including danger trees, and revegetating areas disturbed by construction... implement the Proposed Action Alternative, based on the Albany-Eugene Transmission Line Rebuild Project (DOE...

[Unwanted memory, the Polish eugenic movement in between-the-wars period: side-notes to Krzysztof Kawalec's article].

Science.gov (United States)

Gawin, M

2001-01-01

A polemical response to Krzysztof Kawalec's article 'Dispute over Eugenics in 1918-1939', published in 'Medycyna Nowizytna' ['Modern Medicine'], 2000, vol. 7, fascicle 2. In his article Krzysztof Kawalec overlooks the issue of race, which had been at the centre of the eugenic ideology, and then erroneously situates eugenicists on the political spectrum. The eugenicists were not radicals or totalitarians but constituted a group of leftist-liberal intellectuals. Their views were rejected by the Polish government circles in power at that time, not without the deterring influence of Nazi racism and the opposition of the Catholic Church. The main reason why eugenic notions suffered a defeat in pre-war Poland was the isolation and political weakness of eugenic circles. Therefore, issues relating to Polish eugenics during the two decades between the two World Wars should be consigned to a much greater degree to the realm of learning and social movements rather than to the political sphere.

Clinical and genetic data of Huntington disease in Moroccan patients

African Journals Online (AJOL)

Background: Huntington's disease (HD) occurs worldwide with prevalence varying from 0.1 to 10 /100,000 depending of the ethnic origin. Since no data is available in the Maghreb population, the aim of this study is to describe clinical and genetic characteristics of Huntington patients of Moroccan origin. Methods: Clinical ...

75 FR 13454 - Special Local Regulation, Fran Schnarr Open Water Championships, Huntington Bay, NY

Science.gov (United States)

2010-03-22

...-AA08 Special Local Regulation, Fran Schnarr Open Water Championships, Huntington Bay, NY AGENCY: Coast... navigable waters of Huntington Bay, New York due to the annual Fran Schnarr Open Water Championships. The..., ``Special Local Regulation, Fran Schnarr Open Water Championships, Huntington Bay, NY'' (Docket number USCG...

75 FR 38710 - Special Local Regulation, Fran Schnarr Open Water Championships, Huntington Bay, NY

Science.gov (United States)

2010-07-06

...-AA08 Special Local Regulation, Fran Schnarr Open Water Championships, Huntington Bay, NY AGENCY: Coast... Regulation on the navigable waters of Huntington Bay, New York due to the annual Fran Schnarr Open Water... ``Special Local Regulation, Fran Schnarr Open Water Championships, Huntington Bay, NY'' in the Federal...

Continuities and ruptures in the history of eugenics: an analysis from Renato Kehl publications in the Post-World War II

Directory of Open Access Journals (Sweden)

Leonardo Dallacqua de Carvalho

2017-12-01

Full Text Available Overall, the period after World War II is characterized as a turning point or discontinuance of racial theories and debate about racial identity, especially when referring to the history of eugenics. From the analysis of medical work of eugenicist Renato Kehl, the aim of this study is to investigate the continuities and discontinuities of eugenic through this author, trying to understand the way that eugenic ideas gained in the post-World War II. The continuity of Kehl publications on eugenics in the 1940s to 1960s allows us to observe the development of this debate in a context of contestation to the Eugenics theories.

Earliest functional declines in Huntington disease

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Beglinger, Leigh J.; O'Rourke, Justin J.F.; Wang, Chiachi; Langbehn, Douglas R.; Duff, Kevin; Paulsen, Jane S.

2013-01-01

We examined the gold standard for Huntington disease (HD) functional assessment, the Unified Huntington's Disease Rating Scale (UHDRS), in a group of at-risk participants not yet diagnosed but who later phenoconverted to manifest HD. We also sought to determine which skill domains first weaken and the clinical correlates of declines. Using the UHDRS Total Functional Capacity (TFC) and Functional Assessment Scale (FAS), we examined participants from Huntington Study Group clinics who were not diagnosed at their baseline visit but were diagnosed at a later visit (N = 265). Occupational decline was the most common with 65.1% (TFC) and 55.6% (FAS) reporting some loss of ability to engage in their typical work. Inability to manage finances independently (TFC 49.2%, FAS 35.1%) and drive safely (FAS 33.5%) were also found. Functional decline was significantly predicted by motor, cognitive, and depressive symptoms. The UHDRS captured early functional losses in individuals with HD prior to formal diagnosis, however, fruitful areas for expanded assessment of early functional changes are performance at work, ability to manage finances, and driving. These are also important areas for clinical monitoring and treatment planning as up to 65% experienced loss in at least one area prior to diagnosis. PMID:20471695

Hitler's bible: an analysis of the relationship between American and German eugenics in pre-war Nazi Germany.

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Brown, Susan

2009-06-01

Throughout the last century the wellbeing of those with disability has been threatened by the idea of eugenics. The most notable and extreme example of this could be considered to have been carried out during World WarTwo, within Nazi eugenic programmes. These resulted in the sterilisation and killing of hundreds of thousands of disabled people. Through research of a wide range of sources it has been established that much of the inspiration and encouragement for this rapidly progressing movement in Germany initially came from America, most notably from California. American eugenicists expressed interest, and at times jealousy, at the speed of the progression in German eugenics. German Sterilisation laws were drafted following careful study of American experiments and research, while financial support from a number of American individuals encouraged further German research. Correspondence between influential leaders, including Hitler, Grant and Whitney, Verschuer and Popenoe, on both sides also added to the developing relationship. In conclusion, although there are a number of vital differences between the progress of the eugenics programme in America and in pre-war Nazi Germany, and eugenics in America never produced the massive genocide that occurred in Germany, it is clear that the research, encouragement and enthusiasm from America had a profound influence on the rapidly growing Nazi eugenics movement.

Zur Rolle von Plansprachen im terminologiewissenschaftlichen Werk von Eugen Wuster (The Role of Planned Languages in Eugen Wuster's Work on Terminology Science).

Science.gov (United States)

Blanke, Detlev

1998-01-01

Discusses the relationship between planned languages and specialized technical languages, with particular reference to Esperanto, and analyzes its significance for several aspects of Eugen Wuster's (the founder of terminology science) work. (Author/VWL)

Elujõuline Eesti etnoloogia / Terje Anepaio, Aivar Jürgenson, Timothy King, Art Leete ; interv. Maarja Kaaristo

Index Scriptorium Estoniae

2006-01-01

Etnoloogia hetkeseisu ja tuleviku üle arutlevad Eesti Rahva Muuseumi teadusdirektor Terje Anepaio, Ajaloo Instituudi etnoloogia osakonna juhataja vanemteadur Aivar Jürgenson, Tallinna Ülikooli antropoloogia õppekava juht Timothy King ja Tartu Ülikooli etnoloogia õppetooli professor Art Leete

Lessons from Queer Bioethics: A Response to Timothy F. Murphy.

Science.gov (United States)

Richie, Cristina

2016-06-01

'Bioethics still has important work to do in helping to secure status equality for LGBT people' writes Timothy F. Murphy in a recent Bioethics editorial. The focus of his piece, however, is much narrower than human rights, medical care for LGBT people, or ending the HIV/AIDS pandemic. Rather, he is primarily concerned with sexuality and gender identity, and the medical intersections thereof (i.e. DSM diagnosis; access to SrS or ARTs). It is the objective of this response to provide an alternate account of bioethics from a Queer perspective. I will situate Queer bioethics within Queer studies, and offer three 'lessons' that bioethics can derive from this perspective. These are not definitive rules for Queer bioethics, since it is a field which fundamentally opposes categorizations, favoring pastiche over principles. These lessons are exploratory examples, which both complement and contradict LGBT bioethics. My latter two lessons - on environmental bioethics and disability - overlap with some of Murphy's concerns, as well as other conceptions of LGBT bioethics. However, the first lesson takes an antithetical stance to Murphy's primary focus by resisting all forms of heteroconformity and disavowing reproduction as consonant with Queer objectives and theory. The first lesson, which doubles as a primer in Queer theory, does heavy philosophical lifting for the remainder of the essay. This response to Timothy F. Murphy, whose work is certainly a legacy in bioethics, reveals the multiplicity of discourses in LGBT/Queer studies, many of which are advantageous - even essential - to other disciplines like bioethics. © 2016 John Wiley & Sons Ltd.

The economics of race and eugenic sterilization in North Carolina: 1958-1968.

Science.gov (United States)

Price, Gregory N; Darity, William A

2010-07-01

Theoretical justifications for state-sanctioned sterilization of individuals provided by Irving Fisher rationalized its racialization on grounds that certain non-white racial groups, particularly blacks due to their dysgenic biological and behavioral traits, retarded economic growth and should be bred out of existence. Fisher's rationale suggests that national or state level eugenic policies that sterilized the so-called biological and genetically unfit could have been racist in both design and effect by disproportionately targeting black Americans. We empirically explore this with data on eugenic sterilizations in the State of North Carolina between 1958 and 1968. Count data parameter estimates from a cross-county population allocation model of sterilization reveal that the probability of non-institutional and total sterilizations increased with a county's black population share-an effect not found for any other racial group in the population. Our results suggest that in North Carolina, eugenic sterilization policies were racially biased and genocidal. 2010 Elsevier B.V. All rights reserved.

Arnold Gesell's progressive vision: child hygiene, socialism and eugenics.

Science.gov (United States)

Harris, Ben

2011-08-01

In October 1913, The American Magazine published an article by Arnold Gesell that portrayed Alma, Wisconsin (his hometown) as overflowing with the mentally and morally unfit. In "The Village of a Thousand Souls", Gesell called for the observation and segregation of the unfit as a eugenic measure. This article explores the reasons behind this infamous article by someone who became a famous developmental psychologist and pediatrician. Gesell's papers at the Library of Congress reveal his socialist views of poverty, injustice, and human development. The archives of his father's photography studio at the Wisconsin Historical Society reveal his manipulation of the photographic record to fit his negative view of Alma. Typical of the era, Gesell's Progressive vision combined social control and negative eugenics with egalitarianism and the benevolent engineering of the environment.

The Addenbrooke's Cognitive Examination-Revised accurately detects cognitive decline in Huntington's disease.

Science.gov (United States)

Begeti, Faye; Tan, Adrian Y K; Cummins, Gemma A; Collins, Lucy M; Guzman, Natalie Valle; Mason, Sarah L; Barker, Roger A

2013-11-01

Cognitive features, which begin before manifestation of the motor features, are an integral part of Huntington's disease and profoundly affect quality of life. A number of neuropsychological batteries have been used to assess this aspect of the condition, many of which are difficult to administer and time consuming, especially in advanced disease. We, therefore, investigated a simple and practical way to monitor cognition using the Addenbrooke's Cognitive Examination-Revised (ACE-R) in 126 manifest Huntington's disease patients, 28 premanifest gene carriers and 21 controls. Using this test, we demonstrated a selective decrease in phonemic, but not semantic, fluency in premanifest participants Cognitive decline in manifest Huntington's disease varied according to disease severity with extensive cognitive decline observed in early-stage Huntington's disease patients, indicating that this would be an optimal stage for interventions designed to halt cognitive decline, and lesser changes in the advanced cases. We next examined cognitive performance in patients prescribed antidopaminergic drugs as these drugs are known to decrease cognition when administered to healthy volunteers. We paradoxically found that these drugs may be beneficial, as early-stage Huntington's disease participants in receipt of them had improved attention and Mini-Mental State Examination scores. In conclusion, this is the first study to test the usefulness of the ACE-R in a Huntington's disease population and demonstrates that this is a brief, inexpensive and practical way to measure global cognitive performance in clinical practice with potential use in clinical trials.

Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome.

Science.gov (United States)

Garcia-Moreno, Hector; Fassihi, Hiva; Sarkany, Robert P E; Phukan, Julie; Warner, Thomas; Lehmann, Alan R; Giunti, Paola

2018-01-01

Xeroderma pigmentosum is characterized by cutaneous, ophthalmological, and neurological features. Although it is typical of childhood, late presentations can mimic different neurodegenerative conditions. We report two families presenting as Huntington's disease-like syndromes. The first case (group G) presented with neuropsychiatric features, cognitive decline and chorea. Typical lentigines were only noticed after the neurological disease started. The second case (group B) presented adult-onset chorea and neuropsychiatric symptoms after an aggressive ocular melanoma. Xeroderma pigmentosum can manifest as a Huntington's Disease-like syndrome. Classic dermatological and oncological features have to be investigated in choreic patients with negative genetic tests for Huntington's disease-like phenotypes.

Music therapy in Huntington's disease

NARCIS (Netherlands)

Bruggen-Rufi, van C.H.M.

2018-01-01

The thesis reports about the effects of music therapy with patients in the late stage of Huntington's disease. A literature review, a focus group study, a randomized controlled trial, an evaluation for complex interventions and a case report study are integrated in the thesis. The beneficial

The Wilson films--Huntington's chorea.

Science.gov (United States)

Klein, Christine

2011-12-01

Wilson's Queen Square Case 9 with Huntington's chorea shows a 68-year-old man with mild to moderate generalized chorea, impaired fixation, and probable cognitive decline in keeping with a diagnosis of Huntington's disease (HD). An age of onset in the late sixties and a negative family history suggest a relatively small expanded trinucleotide repeat in the HTT gene in the patient and reduced penetrance of an even shorter repeat allele in one of his parents. A highly sensitive and specific gene test has been offered worldwide for diagnostic testing of HD for almost two decades. This test, obviously unavailable at Wilson's times, became the historic frontrunner for guidelines of symptomatic, presymptomatic, and prenatal testing for an adult-onset neurodegenerative disorder. Regarding treatment of HD, however, we are still awaiting the successful translation of research results into the development of effective cause-directed, neuropreventive and neurorestaurative therapies. Copyright © 2011 Movement Disorder Society.

[Constant or break? On the relations between human genetics and eugenics in the Twentieth Century].

Science.gov (United States)

Germann, Pascal

2015-07-01

The history of human genetics has been a neglected topic in history of science and medicine for a long time. Only recently, have medical historians begun to pay more attention to the history of human heredity. An important research question deals with the interconnections between human genetics and eugenics. This paper addresses this question: By focusing on a Swiss case study, the investigation of the heredity of goiter, I will argue that there existed close but also ambiguous relations between heredity research and eugenics in the twentieth century. Studies on human heredity often produced evidence that challenged eugenic aims and ideas. Concurrently, however, these studies fostered visions of genetic improvement of human populations.

The use of olanzapine in Huntington disease accompanied by psychotic symptoms

Directory of Open Access Journals (Sweden)

Cafer Alhan

2014-06-01

Full Text Available Huntington's disease is an autosomal dominant neurodegenerative disease. The disease begins between the ages of 30-50, including motor symptoms, psychiatric symptoms and is characterized by progressive dementia. Common psychiatric disorders of Huntington’s disease include mood and anxiety disorders, behavior and personality changes. Psychosis is relatively rare. Here, a patient is present, who has Huntington’s disease, which is associated with psychotic symptoms. 61-year-old male patient who were followed for Huntington disease for 25 years was admitted for complaints of thinking of poisoning and refuse to eat something. Patient was started on olanzapine at dose of 5 mg/day. In follow up psychotic symptoms disappeared. Emerging psychotic symptoms in Huntington disease is created a need for antipsychotic treatment. Atypical antipsychotic agents should be preferred in the treatment and as in the case olanzapine may be used as a treatment option should be kept in mind to control both involuntary movements and psychotic symptoms in Huntington's disease with psychotic features. J Clin Exp Invest 2014; 5 (2: 326-328

Prenatal diagnosis as a tool and support for eugenics: myth or reality in contemporary French society?

Science.gov (United States)

Gaille, Marie; Viot, Géraldine

2013-02-01

Today, French public debate and bioethics research reflect an ongoing controversy about eugenics. The field of reproductive medicine is often targeted as pre-implantation genetic diagnosis (PGD), prenatal diagnosis, and prenatal detection are accused of drifting towards eugenics or being driven by eugenics considerations. This article aims at understanding why the charge against eugenics came at the forefront of the ethical debate. Above all, it aims at showing that the charge against prenatal diagnosis is groundless. The point of view presented in this article has been elaborated jointly by a geneticist and a philosopher. Besides a survey of the medical, bioethical, philosophical and social sciences literature on the topic, the methodology is founded on a joint analysis of geneticist's various consults. Evidence from office visits demonstrated that prenatal diagnosis leads to case-by-case decisions. As we have suggested, this conclusion does not mean that prenatal diagnosis is devoid of ethical issues, and we have identified at least two. The first is related to the evaluation of a decision to abort. The second line of ethical questions arises from the fact that the claim for "normality" hardly hides normative and ambiguous views about disability. As a conclusion, ethical dilemmas keep being noticeable in the field of reproductive medicine and genetic counselling, but an enquiry about eugenic tendencies probably does not allow us to understand them in the proper way.

"The Bell Curve" and Carrie Buck: Eugenics Revisited.

Science.gov (United States)

Smith, J. David

1995-01-01

The 1994 publication of "The Bell Curve" by R. Herrnstein and C. Murray is compared to other examples of eugenic principles, including the sterilization of "feebleminded" Carrie Buck, family degeneracy studies focusing on lower class Caucasian families, and other works that view the poorest and least educated members of society…

"Democracy was never intended for degenerates": Alberta's flirtation with eugenics comes back to haunt it.

Science.gov (United States)

Cairney, R

1996-09-15

An Alberta woman recently won a lawsuit against the government of Alberta for wrongful sterilization that took place when she was a 14-year-old ward at the Provincial Training School for Mental Defectives. It was the first time the province has been held accountable for actions taken under the Sexual Sterilization Act, a 1927 law that promoted the theory of eugenics and led to the sterilization of more than 2800 people. It has since been repealed. A physician who served on the province's Eugenics Board said the decisions were based on the best scientific advice and medical techniques available at the time. Today, she added, eugenics is being practised in a different way through prenatal diagnosis and therapeutic abortion.

„Skrwawione ziemie” Timothy Snydera. Krytyczne uwagi na temat konstrukcji krajobrazu historycznego

Directory of Open Access Journals (Sweden)

Jürgen Zarusky

2012-12-01

Full Text Available Timothy Snyder’s "Bloodlands". Critical comments on the construction of historical landscape Jürgen Zarusky's text is an extensive deconstruction of Timothy Snyder's narration presented in Bloodlands. The narration is based on the assumption, that both regimes – Nazi and Soviet – and their extermination practicies were similar. In Bloodlands Stalin's crimes are presented as a form of ethnic extermination. Thus Snyder suggested ideological kinship between both dictators without analysing specific ideologies. Although the author specifies the differences between these two ideologies he does not ask about their significance to the enemy image and extermination practicies. Snyder's narration concentrates excessively on Poland – as the core of “bloodlands”. In the closing chapter of the book Poles are depicted as the actual martyrs of “bloodlands” in Poland, as well as on the territory of the Soviet Union. Yet up to this day there are ethinc gorups – like Sinti and Romany -  who have to fight for the recognition of their tragic experiences as the victims of crimes commited by German authorities. The author also does not mention about the victims of the agressive wars against the Soviet Union. Thus the point of Bloodlands is not to present all the victims of totalitarianism and the war, all the victims from “bloodlands”, but to present only the victims selected by the author.   „Skrwawione ziemie” Timothy Snydera. Krytyczne uwagi na temat konstrukcji krajobrazu historycznego Tekst Jürgen Zarusky'ego to obszerna dekonstrukcja narracji Timothy Snydera zaprezentowanej w książce Skrwawione ziemie. Zasadza się ona na założeniu, że oba reżimy - niemiecki i radziecki - oraz ich praktyki eksterminacyjne były bardzo do siebie zbliżone. W książce przedstawiono stalinowskie zbrodnie masowe jako formę etnicznej eksterminacji. W ten sposób Snyder zasugerował ideologiczne pokrewieństwo między obu dyktatorami, nie

Kas Huntington oli prohvet? / Priit Simson

Index Scriptorium Estoniae

Simson Priit, 1977-

2008-01-01

Autor käsitleb Samuel Huntingtoni teese ning leiab, et tegelikult Huntington ei pakkunud õigustust islamiriikide ründamisele, vaid pigem hoiatas tsivilisatsioonide siseasjusse sekkumise, tekkida võiva ahelreaktsiooni eest, kus üks tsivilisatsiooni liige tõmbab sõtta ka teise

Failure of cellulolysis in the rumen of reindeer fed timothy silage

Directory of Open Access Journals (Sweden)

Monica A. Olsen

1995-01-01

Full Text Available Three male reindeer (Rangifer tarandus tarandus calves were brought from mountain pastures in April and fed regrowth timothy (Phleum pratense silage with 76% leaves and 24.0% dry matter (DM ad libitum. The silage contained (on DM basis 25.4% cellulose, 12.0% crude protein and 19-6% water soluble carbohydrates. After an initial period of 11 days the daily silage intake rose to almost similar values for all animals, but independently of food intake, body mass (BM increased by as much as 13.3 kg for animal R3 during the first 21 days, compared to 4.4 kg and 2.8 kg for Rl and R2, respectively. At slaughter the wet weight of the rumen contents of animal R3 constituted 30.2% of the total BM, compared to 18.5% and 19.1% in animals Rl and R2, respectively. A reduced ability of the rumen micro-biota to ferment pure cellulose in vitro was observed in R3. The ruminal pH was 7.07 and the concentration of volatile fatty acids was only 50.0 mM in R3, indicating a low rate of fermentation. The initial rates of in vitro dry matter digestibility of timothy silage and standard hay were also affected by the rumen fermentation failure in animal R3. Depressed rumen cellulolysis, which may be related to natural periods of starvation prior to the feeding experiment, could have caused the low rate of fermentation and the large rumen size observed in this animal.

The emotional experiences of family carers in Huntington disease.

Science.gov (United States)

Williams, Janet K; Skirton, Heather; Paulsen, Jane S; Tripp-Reimer, Toni; Jarmon, Lori; McGonigal Kenney, Meghan; Birrer, Emily; Hennig, Bonnie L; Honeyford, Joann

2009-04-01

This paper is a report of a study conducted to examine the emotional experience of caregiving by family carers of people with Huntington disease and to describe strategies they used to deal with that experience. Huntington disease, commonly diagnosed in young to middle adulthood, is an inherited single gene disorder involving loss of cognitive, motor and neuropsychiatric function. Many family members become caregivers as well as continuing as parents and wage earners. The emotional aspects of caregiving contribute to mental health risks for family members. Focus groups were conducted with 42 adult carers of people with Huntington disease in four United States and two Canadian Huntington disease centers between 2001 and 2005. Data were analyzed through descriptive coding and thematic analysis. All participants reported multiple aspects of emotional distress. Being a carer was described as experiencing disintegration of one's life. Carers attempted to cope by seeking comfort from selected family members, anticipating the time when the care recipient had died and/or using prescription medications. Spousal carers were distressed by the loss of their relationship with their spouse and dealt with this by no longer regarding the person as an intimate partner. Carers were concerned about the disease risk for children in their families and hoped for a cure. Emotional distress can compromise the well-being of family carers, who attempt to maintain multiple roles. Nurses should monitor carer mental health, identify sources of emotional distress and support effective strategies used by carers to mediate distress.

Chris Woodhead: A New Champion of Eugenic Theories

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Chitty, Clyde

2009-01-01

Eugenic Theories are clearly alive and well in present-day society--or this is at least true of those theories relating to the passing on of abilities and talents from one generation to the next. This depressing thought was prompted by a reading of Chris Woodhead's latest book "A Desolation of Learning."

Colombia en el contexto eugenésico latinoamericano 1900-1950

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Juan Vianey Tovar Mosquera

2016-01-01

Full Text Available Introducción. La Eugenesia es un acontecimiento histórico que logró mover, una vez más, los fundamentos éticos tradicionales de la humanidad, cuestionando nuestra concepción de lo humano, haciendo de la diferencia, la debilidad o la enfermad una amenaza tangible urgente de normalizar o exterminar. Objetivo. Estudiar la forma como se desarrolló el movimiento eugenésico en Latinoamérica, en países como Argentina, Brasil, Colombia, Cuba, Chile, México y Perú. Materiales y métodos. Artículo de revisión de corte histórico; se seleccionó bibliografía que permitiera 1 brindar acercamiento al origen y principios de la Eugenesia; 2 investigaciones y artículos publicados en los países en mención que dan cuenta del desarrollo del movimiento eugenésico y de las políticas e instituciones con ocasión del mismo; 3 documentos históricos de intelectuales, políticos y educadores colombianos de la primera mitad del siglo XX para evaluar su adhesión al darwinismo social y al paradigma degeneracionista; 4 revisión de la legislación de la primera mitad del siglo XX en Colombia para analizar la materialización de principios eugenésicos y finalmente 5 se abordaron documentos que permiten consolidar una reflexión en torno a los graves problemas éticos y sociales que implicó la Eugenesia como un paradigma determinista biológica y socialmente. Resultados y discusión. Se evidencia que el movimiento eugenésico permeó el contexto latinoamericano definiendo, en la primera mitad del siglo XX, la política pública de los diferentes estados en materia educativa, médica, económica y migratoria, entre otras; generando graves problemas de estigmatización racial y moral.

'These pushful days': time and disability in the age of eugenics.

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Baynton, Douglas C

2011-01-01

At the turn of the twentieth century, social attitudes toward disability turned sharply negative. An international eugenics movement brought about restrictive immigration laws in the United States and other immigrant nations. One cause was the changing understanding of time, both historical and quotidian, that accompanied the advent of evolutionary theory and a competitive industrial economy. As analogies of competition became culturally ubiquitous, new words to talk about disability such as 'handicapped', 'retarded', 'abnormal', 'degenerate', and 'defective', came into everyday use, all of them explicitly or implicitly rooted in new ways of thinking about time. The intense fear of disability that characterised the eugenics movement grew, in good part, from this new and unsettling vision of time.

Américo Negrette and Huntington's disease

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Mariana Moscovich

2011-08-01

Full Text Available The authors present a historical review of the seminal clinical contribution of Professor Américo Negrette, a Venezuelan neurologist, to the evolution of scientific knowledge about Huntington's disease.

Clinical and genetic study of a juvenile-onset Huntington disease

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HAO Ying

2012-06-01

Full Text Available Background Huntington's disease (HD is an autosomal dominant hereditary progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dementia, cognitive and affective impairment. There are selective neural cell loss and atrophy in the caudate and putamen. Dr. George Huntington firstly described the disease accurately and insightfully, which led to a widespread recognition of the inherited chorea that now bears his name. Huntington disease gene (IT15 locus on chromosome 4p16.3, and encompasses 67 exons with a trinucleotide repeat (CAG in the first exon. The CAG repeat length is highly polymorphic in the population and expanded on at least one chromosome of individuals with HD. Clinically, patient with HD are often onset in adulthood. Juvenile-onset HD is relatively rare. Adult-onset HD patients usually have a CAG expansion from 40 to 55 whereas those with juvenile-onset greater than 60 which are often inherited from the father. We investigated the clinical features of a juvenile-onset case with Huntington disease and dynamic mutation of his family. Methods The CAG repeats of IT15 gene were detected using polymerase chain reaction and capillary electrophoresis in 115 individuals with preliminary diagnosis as Huntington disease. The repeat numbers of some samples carried expanded or intermediate alleles were verified by the pMD18-T vector clone sequencing. Results Fragment analysis showed that one juvenile-onset case presenting with cognitive dysfunction and hypokinesis carried 15/68 CAG repeats of IT15. His father carried 17/37 and mother carried 15/17. Conclusion 1 The juvenile-onset case of HD presented with different clinical features compared with adult-onset cases. The typical signs of adult-onset cases include progressive chorea, rigidity and dementia. The most common sign of juvenile-onset Huntington disease is cognitive decline. 2 The dynamic mutation of IT15 gene expansion of the CAG repeats in the

Eesti aja arhitektuur : Eugen Habermann 125. Herbert Johanson 125 / Ike Volkov

Index Scriptorium Estoniae

Volkov, Ike, 1951-

2010-01-01

Näitus Eesti Arhitektuurimuuseumis 04. 12. 2009-07. 03. 2010. Eugen Habermannist ja Herbert Johansonist, nende tegevusest ja loomingust. Selle aja ja praegustest probleemidest ning lahendusvõimalustest

A 24-Hour Study of the Hypothalamo-Pituitary Axes in Huntington's Disease.

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Eirini Kalliolia

Full Text Available Huntington's disease is an inherited neurodegenerative disorder characterised by motor, cognitive and psychiatric disturbances. Patients exhibit other symptoms including sleep and mood disturbances, muscle atrophy and weight loss which may be linked to hypothalamic pathology and dysfunction of hypothalamo-pituitary axes.We studied neuroendocrine profiles of corticotropic, somatotropic and gonadotropic hypothalamo-pituitary axes hormones over a 24-hour period in controlled environment in 15 healthy controls, 14 premanifest and 13 stage II/III Huntington's disease subjects. We also quantified fasting levels of vasopressin, oestradiol, testosterone, dehydroepiandrosterone sulphate, thyroid stimulating hormone, free triiodothyronine, free total thyroxine, prolactin, adrenaline and noradrenaline. Somatotropic axis hormones, growth hormone releasing hormone, insulin-like growth factor-1 and insulin-like factor binding protein-3 were quantified at 06:00 (fasting, 15:00 and 23:00. A battery of clinical tests, including neurological rating and function scales were performed.24-hour concentrations of adrenocorticotropic hormone, cortisol, luteinizing hormone and follicle-stimulating hormone did not differ significantly between the Huntington's disease group and controls. Daytime growth hormone secretion was similar in control and Huntington's disease subjects. Stage II/III Huntington's disease subjects had lower concentration of post-sleep growth hormone pulse and higher insulin-like growth factor-1:growth hormone ratio which did not reach significance. In Huntington's disease subjects, baseline levels of hypothalamo-pituitary axis hormones measured did not significantly differ from those of healthy controls.The relatively small subject group means that the study may not detect subtle perturbations in hormone concentrations. A targeted study of the somatotropic axis in larger cohorts may be warranted. However, the lack of significant results despite many

Feed intake, gastrointestinal system and body composition in reindeer calves fed early harvested first cut timothy silage (Phleum pratense

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Harri J. Norberg

1998-02-01

Full Text Available Early harvested first cut (EFC timothy silage was fed to five reindeer calves (Rangifer tarandus tarandus L. taken from their natural summer pasture and brought to Tromsø for feeding trial. The calves were housed indoors in metabolism cages and fed EFC timothy silage ad lib. during the trial, which lasted from late November 1994 until the end of February 1995, when animals subsequently were slaughtered. Daily feed intake, gastrointestinal (GI anatomy, body weight and body composition of the animals were examined. Timothy silage {Phleum praténse was harvested 21 June, 1994 in Tromsø, prewilted and stored as round bales containing 97% leaves. The EFC silage contained 42.1% dry matter (DM, and 18.1% crude protein, 20.7% cellulose, 16.9% hemicellulose and 28.0% water soluble carbohydrates (WSC of DM. Mean feed intake (DM 24 hours after the trial started (day 1 was 9-4 g/kg body mass (BM (S.D.+ 3-9, while the mean daily DM intake during days 15-74 comprised 24.2 g/kg BM (S.D.+ 6.1. All animals except one gained body weight during the trial. The median (range BM at start and at slaughter was 48.5 kg (34.5¬58.0 kg and 50.0 kg (42.0-53.5 kg, respectively. Median (range carcass weight % of BM was 58.0% (51.2-58.7% and muscle index value 0.0132 (0.0106-0.0176. The median reticulo-rumen (RR content wet weight (WW was 4601 g (range 2697-5000 g comprising 9.3% of the BM, and 85.1% of the total gastrointestinal wet weight content. The median (range gastrointestinal tract weight was 14.1% of BM (10.7-16.4%. Based on feed intake during the trial and body composition at slaughtet we conclude that first cut timothy silage is suitable as emergency feed to reindeer, as long as it is harvested in early growth stage with high proportion of leaves.

The role of tau in the pathological process and clinical expression of Huntington's disease

DEFF Research Database (Denmark)

Vuono, Romina; Winder-Rhodes, Sophie; de Silva, Rohan

2015-01-01

and progression of Huntington's disease, the exact molecular mechanisms driving its pathogenic cascade and clinical features, especially the dementia, are not fully understood. Recently the microtubule associated protein tau, MAPT, which is associated with several neurodegenerative disorders, has been implicated......-mortem brain samples from patients with Huntington's disease (n = 16) compared to cases with a known tauopathy and healthy controls. Next, we undertook a genotype-phenotype analysis of a large cohort of patients with Huntington's disease (n = 960) with a particular focus on cognitive decline. We report...... not only on the tau pathology in the Huntington's disease brain but also the association between genetic variation in tau gene and the clinical expression and progression of the disease. We found extensive pathological inclusions containing abnormally phosphorylated tau protein that co-localized in some...

Eugenics and moral authorship. Analysis of a Habermas´s thesis

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César Ortega Esquembre

2017-08-01

Full Text Available The aim of this paper is to study the Jürgen Habermas´s vision of genetic manipulation; in particular, it will be addressed critically his assumption that the genetically engineered person would loose his awareness of authorship. In the author´s view, positive genetic intervention —one that is to genetically enhance the subject— would eliminate the awareness of authorship of that subject, as well as his self-understanding as moral agent. Two aspects of the question will be approached: firstly, the correctness or incorrectness of Habermas´s thesis. Secondly, the relevance of the thesis to oppose positive eugenics. Could be other arguments considered within Habermas´s conceptual framework to oppose positive eugenics?

The Huntington disease locus is most likely within 325 kilobases of the chromosome 4p telomere

International Nuclear Information System (INIS)

Doggett, N.A.; Cheng, J.F.; Smith, C.L.; Cantor, C.R.

1989-01-01

The genetic defect responsible for Huntington disease was originally localized near the tip of the short arm of chromosome 4 by genetic linkage to the locus D4S10. Several markers closer to Huntington disease have since been isolated, but these all appear to be proximal to the defect. A physical map that extends from the most distal of these loci, D4S90, to the telomere of chromosome 4 was constructed. This map identifies at least two CpG islands as markers for Huntington disease candidate genes and places the most likely location of the Huntington disease defect remarkably close (within 325 kilobases) to the telomere

Eugen Bleuler 150: Bleuler's reception of Freud.

Science.gov (United States)

Dalzell, Thomas G

2007-12-01

On the 150th anniversary of Eugen Bleuler's birth, this article examines his reception of Sigmund Freud and his use of Freudian theory to understand the symptoms of schizophrenia. In addition, in contrast to earlier interpretations of Bleuler's relationship with Freud in terms of an eventual personal and theoretical incompatibility, the article demonstrates that, although Bleuler did distance himself from the psychoanalytic movement, he remained consistent in his views on Freud's theories.

[The life as a caregiver of a person affected by Chorea Huntington: multiple case study].

Science.gov (United States)

Winkler, Evi; Ausserhofer, Dietmar; Mantovan, Franco

2012-10-01

Chorea Huntington is an autosomal dominantly inherited, neurodegenerative brain disorder that leads to involuntary hyperkinesia, psychotic symptoms and dementia. The illness not only changes the life of the person itself but also the world of the caregivers. The challenges in the care of a person which is affected by Chorea Huntington have an effect on the daily living as an assemblage of natural and social conditions. a multiple case study was conducted. It included semi-structured interviews with three caregivers of people with Chorea Huntington in South Tyrol. The qualitative data was analyzed using the qualitative structured analysis of Mayring (2007). The objective of this study was to describe the phenomenon of change of life from family members that care people affected by Chorea Huntington in a specific cultural setting (South Tyrol, Italy). The caregivers reported that the diagnosis of Chorea Huntington leads to negative changes in "relationship and family". Particularly, frustration, aggression, impatience and apathy were perceived as stressful. At the same time they highlight the positive changes through home care. They report that the relationship became more intimate and integral and it was characterized by more cohesion. Family caregivers get valuable support from the home care service, however, they complain that there is no facility in South Tyrol, which is specialized to care people with Chorea Huntington. Therefore, the caregivers have to "give up a lot" and don't have any personal desires, dreams and expectations for the future. The caregivers have learned independently to deal with their changed life step by step, and to see also the positive effects of the caring role. The life of family caregivers of a person which is affected by Chorea Huntington is characterized by abandonment. A continuous and professional care would be important for the affected and his caregiver. A continuous and professional care is important for both, addressing the

The Collected Works of Eugene Paul Wigner the Scientific Papers

CERN Document Server

Wigner, Eugene Paul

1993-01-01

Eugene Wigner is one of the few giants of 20th-century physics His early work helped to shape quantum mechanics, he laid the foundations of nuclear physics and nuclear engineering, and he contributed significantly to solid-state physics His philosophical and political writings are widely known All his works will be reprinted in Eugene Paul Wigner's Collected Workstogether with descriptive annotations by outstanding scientists The present volume begins with a short biographical sketch followed by Wigner's papers on group theory, an extremely powerful tool he created for theoretical quantum physics They are presented in two parts The first, annotated by B Judd, covers applications to atomic and molecular spectra, term structure, time reversal and spin In the second, G Mackey introduces to the reader the mathematical papers, many of which are outstanding contributions to the theory of unitary representations of groups, including the famous paper on the Lorentz group

An image-based model of brain volume biomarker changes in Huntington's disease.

Science.gov (United States)

Wijeratne, Peter A; Young, Alexandra L; Oxtoby, Neil P; Marinescu, Razvan V; Firth, Nicholas C; Johnson, Eileanoir B; Mohan, Amrita; Sampaio, Cristina; Scahill, Rachael I; Tabrizi, Sarah J; Alexander, Daniel C

2018-05-01

Determining the sequence in which Huntington's disease biomarkers become abnormal can provide important insights into the disease progression and a quantitative tool for patient stratification. Here, we construct and present a uniquely fine-grained model of temporal progression of Huntington's disease from premanifest through to manifest stages. We employ a probabilistic event-based model to determine the sequence of appearance of atrophy in brain volumes, learned from structural MRI in the Track-HD study, as well as to estimate the uncertainty in the ordering. We use longitudinal and phenotypic data to demonstrate the utility of the patient staging system that the resulting model provides. The model recovers the following order of detectable changes in brain region volumes: putamen, caudate, pallidum, insula white matter, nonventricular cerebrospinal fluid, amygdala, optic chiasm, third ventricle, posterior insula, and basal forebrain. This ordering is mostly preserved even under cross-validation of the uncertainty in the event sequence. Longitudinal analysis performed using 6 years of follow-up data from baseline confirms efficacy of the model, as subjects consistently move to later stages with time, and significant correlations are observed between the estimated stages and nonimaging phenotypic markers. We used a data-driven method to provide new insight into Huntington's disease progression as well as new power to stage and predict conversion. Our results highlight the potential of disease progression models, such as the event-based model, to provide new insight into Huntington's disease progression and to support fine-grained patient stratification for future precision medicine in Huntington's disease.

[Eugenics' extension in the Spanish health care system through the prenatal diagnosis].

Science.gov (United States)

Rodríguez Martín, Esteban

2012-01-01

The wide implantation of strategies of sifted or prenatal selection close to laws that protect the destruction of the human life before the childbirth in the whole world, they are giving place to an increasing number of eugenic abortions. In Spain, the law 2/2010 of the sexual and reproductive health and voluntary interruption of pregnancy there has supposed the liberalization of the eugenic abortion without term limit. In we make concrete, the sanitary national and international policies of prenatal selection of Down's Syndrome, which they chase to facilitate the total or partial destruction before the childbirth of this human group, submitting it to a few particular conditions of existence during his prenatal life in those who will be an object of a series of technologies of selection, they might be qualified of genocidal policies if we consider the definition of genocide given by United Nations. In consequence, the sanitary agent who takes part without objection in the above mentioned programs promoted by the principal agents, meets turned into a necessary cooperator of the abortion who justifies itself in the supposition of "foetal risk". We can conclude that we are present at an eugenic drift of the prenatal diagnosis that is opposite to the ethical beginning of the medical profession.

A Critique of Timothy Vang’s Hmong Religious Conversion and Resistance Study

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Nao Xiong

2009-01-01

Full Text Available We review Timothy Vang’s dissertation on the growth and decline of the Hmong Christian church. We argue that Vang’s arguments are methodologically and theoretically flawed. Furthermore, we try to show that his dissertation is not so much an objective analysis of Hmong religious adaptation, but rather an attempt to define and subjugate certain Hmong cultural and religious beliefs and practices as backward and inferior to Christianity. We suggest that it is these kinds of problematic arguments, often couched in academic language, that further perpetuate misinterpretations and misrepresentations about “culture” and “religion” in Hmong American communities.

Destination and source memory in Huntington's disease

NARCIS (Netherlands)

El Haj, M.; Caillaud, M.; Verny, C.; Fasotti, L.; Allain, P.

2016-01-01

Destination memory refers to the recall of the destination of previously relayed information, and source memory refers to the recollection of the origin of received information. We compared both memory systems in Huntington's disease (HD) participants. For this, HD participants and healthy adults

Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey.

Science.gov (United States)

Bombard, Yvonne; Veenstra, Gerry; Friedman, Jan M; Creighton, Susan; Currie, Lauren; Paulsen, Jane S; Bottorff, Joan L; Hayden, Michael R

2009-06-09

To assess the nature and prevalence of genetic discrimination experienced by people at risk for Huntington's disease who had undergone genetic testing or remained untested. Cross sectional, self reported survey. Seven genetics and movement disorders clinics servicing rural and urban communities in Canada. 233 genetically tested and untested asymptomatic people at risk for Huntington's disease (response rate 80%): 167 underwent testing (83 had the Huntington's disease mutation, 84 did not) and 66 chose not to be tested. Self reported experiences of genetic discrimination and related psychological distress based on family history or genetic test results. Discrimination was reported by 93 respondents (39.9%). Reported experiences occurred most often in insurance (29.2%), family (15.5%), and social (12.4%) settings. There were few reports of discrimination in employment (6.9%), health care (8.6%), or public sector settings (3.9%). Although respondents who were aware that they carried the Huntington's disease mutation reported the highest levels of discrimination, participation in genetic testing was not associated with increased levels of genetic discrimination. Family history of Huntington's disease, rather than the result of genetic testing, was the main reason given for experiences of genetic discrimination. Psychological distress was associated with genetic discrimination (PGenetic discrimination was commonly reported by people at risk for Huntington's disease and was a source of psychological distress. Family history, and not genetic testing, was the major reason for genetic discrimination.

[Eugenics and Falange through the journal Ser (1942-1957)].

Science.gov (United States)

Rendon, Sara Navarro

2016-01-01

Biopolitics has played an important role in fascist totalitarianism and the-Francoist regime was no exception. From the and with ultimate goal or regulating the population, measures were implemented to increase, care for and indoctrinate the population. This present study analyses the selection and promotion measures of some populations and the marginalisation of others proposed the Spanish Falangist Movement's official publication in the field of medicine, the journal Ser, Revista Medico-Social by the National Delegation of Health of the Traditionalist Spanish Phalanx of the Committees of the National Syndicalist Offensivie (F.E.T y de las J. O. N. S. 1942-1957). In this respect, the analysis of eugenic ideas and practice defended therein become especially interesting, claiming that, through indoctrination and health development, the race would be improved both physically and mentally. From the systematic analysis of the journals's contenets it has been demonstrated that this was one of the instruments used by the dictatorial regime to reconfigure eugenics in accordance with Catholic morals and national syndicalist politics.

The doers of good. Scandinavian historians revise the social history of eugenics(1997-2001).

Science.gov (United States)

Zylberman, Patrick

2008-01-01

Late disclosure of the large scale of sterilization practices in the Nordic countries created an outburst of scandal: did these policies rely on coercion? To what extent? Who in the end was responsible? Sterilization practices targeted underprivileged people first. The mentally retarded and women were their first victims. Operations were very frequently determined by other people's manipulative or coercive influences. Should the blame be put on the Social-Democrats in power throughout the period (except in Finland and Estonia)? Apart from Denmark, perhaps, local physicians and local services, more than governments, seemed to have strongly supported sterilization practices. Teetotalers and feminists shared responsibilities. How can one explain that eugenics finally declined? Based on a sound application of the Hardy-Weinberg law, the science of the eugenicists was correct. Was it politics? But uncovering of the Nazi crimes had only a very small impact on eugenics. Some authors underline the fact that the Nordic scientific institutions were particularly suited to liberal values. Others point to the devastating effect on eugenics once hereditarist psychiatry fell from favor in the middle of the sixties.

Echoes of a Forgotten Past: Eugenics, Testing, and Education Reform.

Science.gov (United States)

Stoskopf, Alan

2002-01-01

Review of the work of Goddard, Terman, and Thorndike and the role of eugenics and the intelligence quotient in testing points out dangers to be avoided in the current testing climate, such as use of the business model, single-number scores, and tracking. (Contains 42 references.) (SK)

The Legitimizing Function of Judicial Rhetoric in the Eugenics Controversy.

Science.gov (United States)

Hasian, Marouf, Jr.; Croasmun, Earl

1992-01-01

Investigates the possibility that judicial policymaking is responsive to the situational exigencies created in part through public discourse. Investigates the elite and public perspectives regarding the eugenics controversy in the 1920s to explore the emergent relationship between the public and technical spheres of argument. (SR)

A randomized, double-blind, placebo-controlled study of latrepirdine in patients with mild to moderate Huntington disease

DEFF Research Database (Denmark)

Hjermind, Lena Elisabeth

2013-01-01

BACKGROUND Latrepirdine is an orally administered experimental small molecule that was initially developed as an antihistamine and subsequently was shown to stabilize mitochondrial membranes and function, which might be impaired in Huntington disease. OBJECTIVE To determine the effect of latrepir......BACKGROUND Latrepirdine is an orally administered experimental small molecule that was initially developed as an antihistamine and subsequently was shown to stabilize mitochondrial membranes and function, which might be impaired in Huntington disease. OBJECTIVE To determine the effect...... of latrepirdine on cognition and global function in patients with mild to moderate Huntington disease. DESIGN Randomized, double-blind, placebo-controlled study. SETTING Sixty-four research centers in Australia, Europe, and North America. PATIENTS Four hundred three patients with mild to moderate Huntington...... between those randomized to latrepirdine (68.5%) and placebo (68.0%). CONCLUSION In patients with mild to moderate Huntington disease and cognitive impairment, treatment with latrepirdine for 6 months was safe and well tolerated but did not improve cognition or global function relative to placebo. TRIAL...

An improved assay for the determination of Huntington`s disease allele size

Energy Technology Data Exchange (ETDEWEB)

Reeves, C.; Klinger, K.; Miller, G. [Intergrated Genetics, Framingham, MA (United States)

1994-09-01

The hallmark of Huntington`s disease (HD) is the expansion of a polymorphic (CAG)n repeat. Several methods have been published describing PCR amplification of this region. Most of these assays require a complex PCR reaction mixture to amplify this GC-rich region. A consistent problem with trinucleotide repeat PCR amplification is the presence of a number of {open_quotes}stutter bands{close_quotes} which may be caused by primer or amplicon slippage during amplification or insufficient polymerase processivity. Most assays for HD arbitrarily select a particular band for diagnostic purposes. Without a clear choice for band selection such an arbitrary selection may result in inconsistent intra- or inter-laboratory findings. We present an improved protocol for the amplification of the HD trinucleotide repeat region. This method simplifies the PCR reaction buffer and results in a set of easily identifiable bands from which to determine allele size. HD alleles were identified by selecting bands of clearly greater signal intensity. Stutter banding was much reduced thus permitting easy identification of the most relevant PCR product. A second set of primers internal to the CCG polymorphism was used in selected samples to confirm allele size. The mechanism of action of N,N,N trimethylglycine in the PCR reaction is not clear. It may be possible that the minimal isostabilizing effect of N,N,N trimethylglycine at 2.5 M is significant enough to affect primer specificity. The use of N,N,N trimethylglycine in the PCR reaction facilitated identification of HD alleles and may be appropriate for use in other assays of this type.

Music therapy in Huntington's disease: a protocol for a multi-center randomized controlled trial.

Science.gov (United States)

van Bruggen-Rufi, Monique; Vink, Annemieke; Achterberg, Wilco; Roos, Raymund

2016-07-26

Huntington's disease is a progressive, neurodegenerative disease with autosomal dominant inheritance, characterized by motor disturbances, cognitive decline and behavioral and psychological symptoms. Since there is no cure, all treatment is aimed at improving quality of life. Music therapy is a non-pharmacological intervention, aiming to improve the quality of life, but its use and efficacy in patients with Huntington's disease has hardly been studied. In this article, a protocol is described to study the effects of music therapy in comparison with a control intervention to improve quality of life through stimulating expressive and communicative skills. By targeting these skills we assume that the social-cognitive functioning will improve, leading to a reduction in behavioral problems, resulting in an overall improvement of the quality of life in patients with Huntington's disease. The study is designed as a multi-center single-blind randomised controlled intervention trial. Sixty patients will be randomised using centre-stratified block-permuted randomisation. Patients will be recruited from four long-term care facilities specialized in Huntington's disease-care in The Netherlands. The outcome measure to assess changes in expressive and communication skills is the Behaviour Observation Scale Huntington and changes in behavior will be assessed by the Problem Behaviour Assesment-short version and by the BOSH. Measurements take place at baseline, then 8, 16 (end of intervention) and 12 weeks after the last intervention (follow-up). This randomized controlled study will provide greater insight into the effectiveness of music therapy on activities of daily living, social-cognitive functioning and behavior problems by improving expressive and communication skills, thus leading to a better quality of life for patients with Huntington's disease. Netherlands Trial Register: NTR4904 , registration date Nov. 15, 2014.

What Was Wrong with Eugenics? Conflicting Narratives and Disputed Interpretations

Science.gov (United States)

Paul, Diane B.

2014-01-01

Although it is often taken for granted that eugenics is odious, exactly what makes it so is far from obvious. The existence of considerable interpretative flexibility is evident in the disparate policy lessons for contemporary reproductive genetics (or "reprogenetics") that have been derived from essentially the same set of historical…

Caregiver roles in families affected by Huntington's disease

DEFF Research Database (Denmark)

Røthing, Merete; Malterud, Kirsti; Frich, Jan C

2013-01-01

AIM: The objective of this study was to explore family caregivers' experiences with the impact of Huntington's disease (HD) on the family structure and roles in the family. METHODOLOGY: We interviewed 15 family caregivers in families affected by HD, based on a semi-structured interview guide...... for impairments by taking on adult responsibilities, and in some families, a child had the role as main caregiver. The increasing need for care could cause conflicts between the role as family member and family caregiver. The burden of care within the family could fragment and isolate the family. CONCLUSIONS......: Huntington's disease has a major impact on family systems. Caregiver roles are shaped by impairments in the affected family member and corresponding dynamic adoption and change in roles within the family. Making assessments of the family structure and roles, professionals may understand more about how...

77 FR 71636 - Huntington Foam LLC, Fort Smith, AR; Notice of Revised Determination on Reconsideration

Science.gov (United States)

2012-12-03

... Smith, AR; Notice of Revised Determination on Reconsideration On August 8, 2012, the Department of Labor... workers and former workers of Huntington Foam LLC, Fort Smith, Arkansas (subject firm). The workers are... reconsideration investigation, I determine that workers of Huntington Foam LLC, Fort Smith, Arkansas, who were...

Fatty acid composition of ruminal digesta and longissimus muscle from lambs fed silage mixtures including red clover, sainfoin, and timothy.

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Campidonico, L; Toral, P G; Priolo, A; Luciano, G; Valenti, B; Hervás, G; Frutos, P; Copani, G; Ginane, C; Niderkorn, V

2016-04-01

This work investigated the effects of feeding silage mixtures of a plant containing polyphenol oxidase (PPO; red clover [; RC]), a plant containing tannins (sainfoin [; SF]), and a grass species not containing these compounds (timothy [; T]) on ruminal and intramuscular (i.m.) fatty acids of lambs. Forty 4-mo-old castrated male Romane lambs, divided into 5 groups, received 1 of the following silages: 1) T (100%), 2) a binary mixture of timothy and tannin-containing sainfoin ( cv. Perly; 50:50 [T-SF]), 3) a binary mixture of timothy and PPO-containing red clover ( cv. Mervius; 50:50 [T-RC]), 4) a ternary mixture of timothy, sainfoin, and red clover containing both tannins and PPO (50:25:25, respectively [T-SF-RC]), and 5) a binary mixture of tannin-containing sainfoin and PPO-containing red clover (50:50 [SF-RC]). In the rumen digesta, the partial or total replacement of T with forage legumes was associated with greater concentrations of PUFA ( forage legumes in the silage favored the accumulation of 18:3 -3 ( Forage legumes decreased the -11 18:1 to 30% of T in rumen digesta ( Forage legumes decreased the total concentration of branched-chain fatty acids in the rumen digesta (on average, -28%; comparison with T. The dietary treatment tended to affect the proportion of MUFA ( = 0.081) and of PUFA ( = 0.079) in the i.m. fat of the LM, respectively, at the highest and lowest numerical value in the T group. The sum of -3 fatty acids was less in the T and T-SF groups compared with the mixture of legumes without T (SF-RC; comparison with lambs given T-RC, T-SF-RC, and SF-RC. Rumenic acid (-9 -11 CLA) was detected at a greater percentage in the LM from the animals fed the T silage compared with animals fed the T-SF-RC treatment ( = 0.004). Contrarily, -9 -12 -15 18:3 was found at a greater concentration in the muscle from lambs in the SF-RC treatment compared with lambs in the other treatments ( forage for growing lambs in terms of i.m. fatty acid composition.

The Real "Toll" of A. G. Bell: Lessons about Eugenics

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Greenwald, Brian H.

2009-01-01

Historian Brian Greenwald offers a revisionist interpretation of Bell. He reviews Bell's role and influence within the American eugenics movement and shows that Bell had the respect of the most prominent American eugenicists. His intimate knowledge of deafness, from personal experience with his mother and wife and from his studies of deaf people…

To what extent were ideas and beliefs about eugenics held in Nazi Germany shared in Britain and the United States prior to the second world war?

Science.gov (United States)

Wittmann, Emily

2004-06-01

The term eugenics was first coined by Darwin's cousin, Francis Galton, in 1883. The eugenic movement gained public popularity across Europe and North America at the end of the Victorian era, fuelled by the concept of 'social Darwinism' and public fear of a decline in the number of ideal citizens. The origins of eugenic legislation can be found in the USA's immigration acts of the early 1880's. Indiana was the first state to pass sterilisation laws, in 1907. The laws that followed were used as templates by the Nazis, thirty years later. In Britain the Wood Committee (1924) and the Brock Committee (1931) both put pressure on parliament to introduce eugenic laws but were defeated. The anti-eugenics movement was stronger than in other protestant European countries and eugenics fell out of favour as the 1930's progressed. In the USA however, support remained strong, leading one activist to comment in 1934, 'The Germans are beating us at our own game'. There appears to have been little emphasis on eugenics in the Weimar Parliament, but the Nazi's legislation, on coming to power in 1933, surpassed anything conceived on either side of the Atlantic at the outbreak of war in 1939.

Unravelling and Exploiting Astrocyte Dysfunction in Huntington's Disease

DEFF Research Database (Denmark)

Khakh, Baljit S.; Beaumont, Vahri; Cachope, Roger

2017-01-01

Astrocytes are abundant within mature neural circuits and are involved in brain disorders. Here, we summarize our current understanding of astrocytes and Huntington's disease (HD), with a focus on correlative and causative dysfunctions of ion homeostasis, calcium signaling, and neurotransmitter...

[Sporadic juvenile forms of Huntington's chorea].

Science.gov (United States)

Zinchenko, A P; Goncharov, V D; Burtianskii, D L; Zakhar'ev, Iu M

1980-01-01

Six patients with Huntington's chorea in the age of 15-24 years old, suffered from diffusive choreic hyperkynesis with slowly progressive dementia. The development of this disease in childhood and adolescence was atypical, as nobody in the family and in kin sufferred from it and it was difficult to diagnose the disease. Recognition of the disease was promoted by pneumoencephalography, electromyography and memory investigation.

Did the "Woman in the Attic" in Jane Eyre Have Huntington Disease?

Directory of Open Access Journals (Sweden)

Elizabeth A. Coon

2015-07-01

Full Text Available Background: References to neurologic disorders are frequently found in fictional literature and may precede description in the medical literature. Aim: Our aim was to compare Charlotte Brontë’s depiction of Bertha Mason in Jane Eyre to the tenets set forth in George Huntington’s original essay “On chorea” with the hypothesis that Mason was displaying features of Huntington disease. Results: Charlotte Brontë’s 1847 Victorian novel Jane Eyre features the character Bertha Mason, who is portrayed with a progressive psychiatric illness, violent movements, and possible cognitive decline. Similar to Huntington’s tenets, Mason has a disorder with a strong family history suggestive of autosomal dominant inheritance with onset in adulthood, and culminating in suicide. Conclusion: Brontë’s character had features of Huntington disease as originally described by Huntington. Brontë’s keen characterization may have increased awareness of treatment of neuropsychiatric patients in the Victorian era.

The Liberal Eugenics: A Look from the Composition the Future of Human Nature by Jürgen Habermas

OpenAIRE

Freitas, Riva Sobrado De; Zilio, Daniela

2015-01-01

This article intends to analyze the liberal eugenics from the understanding of Jürgen Habermas in the composition The Future of Human Nature, mainly with respect to the possibilities that the subject exposed to genetic manipulation procedures may have hurt its right to self-understanding and, consequently, its personal dignity. The purpose consists in investigating the idea introduced by the author about the liberal eugenics and its possible consequences in relation to the rights of the subje...

Motor cortex synchronization influences the rhythm of motor performance in premanifest huntington's disease.

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Casula, Elias P; Mayer, Isabella M S; Desikan, Mahalekshmi; Tabrizi, Sarah J; Rothwell, John C; Orth, Michael

2018-03-01

In Huntington's disease there is evidence of structural damage in the motor system, but it is still unclear how to link this to the behavioral disorder of movement. One feature of choreic movement is variable timing and coordination between sequences of actions. We postulate this results from desynchronization of neural activity in cortical motor areas. The objective of this study was to explore the ability to synchronize activity in a motor network using transcranial magnetic stimulation and to relate this to timing of motor performance. We examined synchronization in oscillatory activity of cortical motor areas in response to an external input produced by a pulse of transcranial magnetic stimulation. We combined this with EEG to compare the response of 16 presymptomatic Huntington's disease participants with 16 age-matched healthy volunteers to test whether the strength of synchronization relates to the variability of motor performance at the following 2 tasks: a grip force task and a speeded-tapping task. Phase synchronization in response to M1 stimulation was lower in Huntington's disease than healthy volunteers (P synchronization (r = -0.356; P synchronization and desynchronization could be a physiological basis for some key clinical features of Huntington's disease. © 2018 International Parkinson and Movement Disorder Society. © 2018 International Parkinson and Movement Disorder Society.

Eugenics and migration: a case study of Salvation Army literature about Canada and Britain, c.1890-1921.

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Baker, Graham J

2014-01-01

The eugenics movement attracted a wide range of supporters. This article explores this theme with relation to literature about the charitable work of the Salvation Army in Britain and Canada c.1890-1921, with a focus upon the emigration scheme outlined in William Booth's book In Darkest England and the Way Out. These writings indicate the widespread dispersal of eugenic ideology, and demonstrate the flexibility with which these theories were interpreted in this period. It will be shown that the Salvation Army adopted elements of both hereditarian and environmentalist views regarding racial health. These arguments were unified by the claim that the work of the organization made a worthy contribution to public health, both in the present and in the future. This case study sheds new light upon the history of a prominent evangelical Christian organization and upon the development of the international eugenics movement.

Network topology and functional connectivity disturbances precede the onset of Huntington's disease.

Science.gov (United States)

Harrington, Deborah L; Rubinov, Mikail; Durgerian, Sally; Mourany, Lyla; Reece, Christine; Koenig, Katherine; Bullmore, Ed; Long, Jeffrey D; Paulsen, Jane S; Rao, Stephen M

2015-08-01

Cognitive, motor and psychiatric changes in prodromal Huntington's disease have nurtured the emergent need for early interventions. Preventive clinical trials for Huntington's disease, however, are limited by a shortage of suitable measures that could serve as surrogate outcomes. Measures of intrinsic functional connectivity from resting-state functional magnetic resonance imaging are of keen interest. Yet recent studies suggest circumscribed abnormalities in resting-state functional magnetic resonance imaging connectivity in prodromal Huntington's disease, despite the spectrum of behavioural changes preceding a manifest diagnosis. The present study used two complementary analytical approaches to examine whole-brain resting-state functional magnetic resonance imaging connectivity in prodromal Huntington's disease. Network topology was studied using graph theory and simple functional connectivity amongst brain regions was explored using the network-based statistic. Participants consisted of gene-negative controls (n = 16) and prodromal Huntington's disease individuals (n = 48) with various stages of disease progression to examine the influence of disease burden on intrinsic connectivity. Graph theory analyses showed that global network interconnectivity approximated a random network topology as proximity to diagnosis neared and this was associated with decreased connectivity amongst highly-connected rich-club network hubs, which integrate processing from diverse brain regions. However, functional segregation within the global network (average clustering) was preserved. Functional segregation was also largely maintained at the local level, except for the notable decrease in the diversity of anterior insula intermodular-interconnections (participation coefficient), irrespective of disease burden. In contrast, network-based statistic analyses revealed patterns of weakened frontostriatal connections and strengthened frontal-posterior connections that evolved as disease

Mental Symptoms in Huntington's Disease and a Possible Primary Aminergic Neuron Lesion

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Mann, J. John; Stanley, Michael; Gershon, Samuel; Rossor, M.

1980-12-01

Monoamine oxidase activity was higher in the cerebral cortex and basal ganglia of patients dying from Huntington's disease than in controls. Enzyme kinetics and multiple substrate studies indicated that the increased activity was due to elevated concentrations of monoamine oxidase type B. Concentrations of homovanillic acid were increased in the cerebral cortex but not in the basal ganglia of brains of patients with Huntington's disease. These changes may represent a primary aminergic lesion that could underlie some of the mental symptoms of this disease.

Eugene Wigner – A Gedanken Pioneer of the Second Quantum Revolution

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Zeilinger Anton

2014-01-01

Full Text Available Eugene Wigner pointed out very interesting consequences of quantum physics in elegant gedanken experiments. As a result of technical progress, these gedanken experiments have become real experiments and contribute to the development of novel concepts in quantum information science, often called the second quantum revolution.

[On the medical and publishing activities of the community of Saint Eugene].

Science.gov (United States)

2012-01-01

The article deals with the role the physicians played in organization and functioning of the Community of Saint Eugene in St. Petersburg in 1882-1918. The typography production of the Community being of interest for history of medicine is examined.

Eugenia 'negativa', psiquiatria e catolicismo: embates em torno da esterilização eugênica no Brasil 'Negative' eugenics, psychiatry, and Catholicism: clashes over eugenic sterilization in Brazil

Directory of Open Access Journals (Sweden)

Robert Wegner

2013-03-01

Full Text Available Analisa o diálogo do eugenista Renato Kehl com um grupo de psiquiatras brasileiros que, no início da década de 1930, aproximaram-se da chamada eugenia negativa. Entusiasmados com as pesquisas e a aplicação de medidas eugênicas em países como os EUA e a Alemanha, autores como Ernani Lopes, Ignácio da Cunha Lopes, Alberto Farani e Antonio Carlos Pacheco e Silva elegeram a religião católica como empecilho para que o Brasil pudesse seguir caminho semelhante, especialmente quanto à resistência à implantação da esterilização dos ditos 'degenerados' que passara a vigorar na Alemanha em 1934. O artigo mapeia as diferentes estratégias propostas pelos autores para dialogar com a Igreja católica.The article analyzes the dialogue between eugenicist Renato Kehl and a group of Brazilian psychiatrists who turned their interest to so-called negative eugenics in the early 1930s. Enthused about research into eugenics and the application of eugenic methods in countries such as the United States and Germany, authors like Ernani Lopes, Ignácio da Cunha Lopes, Alberto Farani, and Antonio Carlos Pacheco e Silva blamed Catholicism for impeding Brazil from moving in a similar direction, especially the church's resistance to the sterilization of 'degenerates', which entered into effect in Germany in 1934. The article charts the various strategies these authors proposed for engaging in dialogue with the Catholic Church.

[Twenty-five years of screening eugenics in Spain].

Science.gov (United States)

Mérida Donoso, Salvador

2012-01-01

Over the past 25 years, the incidence of newborns with congenital defects in Spain has fallen by 56.7% primarily due to the practice of "fetal risk" abortion, after prenatal diagnosis. In some cases, such as people with Down syndrome, the strategy involves the removal of 80-90% of those affected in pregnancy. After presenting the techniques used today and statistical data, we will make a reflection about the ethical justification for prenatal diagnosis programs and practice of "eugenic" abortion.

Beautiful Science: The Public and Private History of Astronomy at the Huntington Library

Science.gov (United States)

Lewis, Daniel

2009-05-01

The history of astronomy has a long tradition within research libraries. The rare collections at the Huntington Library (encompassing American and British history from around 1000 CE to the present, in many different subject areas) are among the most heavily-used in the United States, The history of astronomy holdings are a cornerstone within the library's history of science holdings. This talk will present the two faces of the history of astronomy holdings at the Huntington Library. The first of these is the research end of operations: what the collections consist of, how the scholarly public uses the collections, and what the implications are for modern astronomical practice. The second element concerns the public exhibit face of the history of astronomy holdings at The Huntington. Of the 600,000 people who visit the Huntington each year, the majority visit public displays and rare book and manuscript exhibits. "Beautiful Science: Ideas That Changed the World” is a new permanent history of science exhibit. One quarter of the exhibit relates to the history of astronomy. Public exhibits require a particular kind of planning and bring a specific set of values to the history of astronomy. Public exhibits also have their own concerns, and this talk will cover a number of those issues as well as the research issues.

EUGEN SIMION – (LITERARY CRITIC – A FORM OF CHARACTER

Directory of Open Access Journals (Sweden)

Dr. Lucian CHIŞU

2013-05-01

Full Text Available The article presents the life and activity of one of the greatest contemporary Romanian literary critics. President of the Romanian Academy, member of the French Academy of Art s, Eugen Simion approached the work of classical and contemporary Romanian writers as well as that of international writers such as E. Ionescu, E. Cioran, M. Eliade, P. Popescu.

JUNCTOPHILIN 3 (JPH3) EXPANSION MUTATIONS CAUSING HUNTINGTON DISEASE LIKE 2 (HDL2) ARE COMMON IN SOUTH AFRICAN PATIENTS WITH AFRICAN ANCESTRY AND A HUNTINGTON DISEASE PHENOTYPE

Science.gov (United States)

Krause, A; Mitchell, CL; Essop, F; Tager, S; Temlett, J; Stevanin, G; Ross, CA; Rudnicki, DD; Margolis, RL

2015-01-01

Huntington disease (HD) is a progressive autosomal dominant neurodegenerative disorder, characterized by abnormal movements, cognitive decline and psychiatric symptoms, caused by a CAG repeat expansion in the huntingtin (HTT) gene on chromosome 4p. A CAG/CTG repeat expansion in the junctophilin-3 (JPH3) gene on chromosome 16q24.2 causes a Huntington disease-like phenotype (HDL2). All patients to date with HDL2 have some African ancestry. The present study aimed to characterize the genetic basis of the Huntington disease phenotype in South Africans and to investigate the possible origin of the JPH3 mutation. In a sample of unrelated South African individuals referred for diagnostic HD testing, 62% (106/171) of white patients compared to only 36% (47/130) of black patients had an expansion in HTT. However, 15% (20/130) of black South African patients and no white patients (0/171) had an expansion in JPH3, confirming the diagnosis of Huntington disease like 2 (HDL2). Individuals with HDL2 share many clinical features with individuals with HD and are clinically indistinguishable in many cases, although the average age of onset and diagnosis in HDL2 is 5 years later than HD and individual clinical features may be more prominent. HDL2 mutations contribute significantly to the HD phenotype in South Africans with African ancestry. JPH3 haplotype studies in 31 families, mainly from South Africa and North America, provide evidence for a founder mutation and support a common African origin for all HDL2 patients. Molecular testing in individuals with an HD phenotype and African ancestry should include testing routinely for JPH3 mutations. PMID:26079385

Racial science in social context: John R. Baker on eugenics, race, and the public role of the scientist.

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Kenny, Michael G

2004-09-01

In 1974 a British biologist, John Randal Baker (1900-1984), published a large and controversial book simply entitled Race that reiterated persistent eugenicist themes concerning the relation between race, intelligence, and progress. The history of Baker's book is a case study in the politics of scientific publishing, and his ideas influenced scholars associated with later works such as The Bell Curve. Baker, a student of Julian Huxley, was a longtime participant in the British eugenics movement and opponent of what he took to be a facile belief in human equality. In 1942, together with Michael Polanyi, he founded the Society for Freedom in Science to oppose those who advocated the central planning of scientific research. Baker's eugenics, political activities, and views on race express an elitist individualism, associated with the conservative wing of the eugenics movement, that this paper explores in the context of his career as a whole.

Clinical neurogenetics: huntington disease.

Science.gov (United States)

Bordelon, Yvette M

2013-11-01

Huntington disease (HD) is an autosomal dominant, adult-onset, progressive neurodegenerative disease characterized by the triad of abnormal movements (typically chorea), cognitive impairment, and psychiatric problems. It is caused by an expanded CAG repeat in the gene encoding the protein huntingtin on chromosome 4 and causes progressive atrophy of the striatum as well as cortical and other extrastriatal structures. Genetic testing has been available since 1993 to confirm diagnosis in affected adults and for presymptomatic testing in at-risk individuals. This review covers HD signs, symptoms, and pathophysiology; current genetic testing issues; and current and future treatment strategies. Copyright © 2013 Elsevier Inc. All rights reserved.

Reduction in mitochondrial DNA copy number in peripheral leukocytes after onset of Huntington's disease

DEFF Research Database (Denmark)

Petersen, Maria Hvidberg; Budtz-Jørgensen, Esben; Sørensen, Sven Asger

2014-01-01

Huntington's disease (HD) is an inherited neurodegenerative disorder characterised by movement disorder, cognitive symptoms and psychiatric symptoms with predominantly adult-onset. The mutant huntingtin protein leads to mitochondrial dysfunction in blood leukocytes. This discovery led to the inve......Huntington's disease (HD) is an inherited neurodegenerative disorder characterised by movement disorder, cognitive symptoms and psychiatric symptoms with predominantly adult-onset. The mutant huntingtin protein leads to mitochondrial dysfunction in blood leukocytes. This discovery led...

Ethical issues and Huntington's disease | Kromberg | South African ...

African Journals Online (AJOL)

The practice of genetic counselling gives rise to many ethical dilemmas, and counsellors need to be familiar with the principles of biomedical ethics. The primary principles include respect for autonomy, beneficence, non-maleficence and justice. A case of identical twins at 50% risk for Huntington's disease, in which only one ...

Maltreatment of people with serious mental illness in the early 20th century: a focus on Nazi Germany and eugenics in America.

Science.gov (United States)

Fischer, Bernard A

2012-12-01

Prejudice and stigma against people with mental illness can be seen throughout history. The worst instance of this prejudice was connected to the rise of the eugenics movement in the early 20th century. Although the Nazi German T-4 program of killing people with mental illness was the most egregious culmination of this philosophy, the United States has its own dark eugenics history-nearing a slippery slope all too similar to that of the Nazis. Mental health care clinicians need to examine this period to honor the memory of the victims of eugenics and to guarantee that nothing like this will ever happen again.

From species ethics to social concerns: Habermas's critique of "liberal eugenics" evaluated.

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Árnason, Vilhjálmur

2014-10-01

Three arguments of Habermas against "liberal eugenics" -- the arguments from consent, responsibility, and instrumentalization -- are critically evaluated and explicated in the light of his discourse ethics and social theory. It is argued that these arguments move partly at a too deep level and are in part too individualistic and psychological to sufficiently counter the liberal position that he sets out to criticize. This is also due to limitations that prevent discourse ethics from connecting effectively to the moral and political domains, e.g., through a discussion of justice. In spite of these weaknesses, Habermas's thesis is of major relevance and brings up neglected issues in the discussion about eugenic reproductive practices. This relevance has not been duly recognized in bioethics, largely because of the depth of his speculations of philosophical anthropology. It is argued that Habermas's notion of the colonization of the lifeworld could provide the analytical tool needed to build that bridge to the moral and political domain.

Characterisation of aggression in Huntington's disease: rates, types and antecedents in an inpatient rehabilitation setting.

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Brown, Anahita; Sewell, Katherine; Fisher, Caroline A

2017-10-01

To systematically review aggression in an inpatient Huntington's cohort examining rates, types and antecedents. Although the prevalence of aggression in Huntington's disease is high, research into this problematic behaviour has been limited. Few studies have investigated the nature of aggressive behaviour in Huntington's disease or antecedents that contribute to its occurrence. A systematic, double-coded, electronic medical file audit. The electronic hospital medical records of 10 people with Huntington's disease admitted to a brain disorders unit were audited for a 90-day period using the Overt Aggression Scale-Modified for Neurorehabilitation framework, yielding 900 days of clinical data. Nine of 10 clients exhibited aggression during the audit period. Both verbal (37·1%) aggression and physical aggression were common (33·8%), along with episodes of mixed verbal and physical aggression (15·2%), while aggression to objects/furniture was less prevalent (5·5%). The most common antecedent was physical guidance with personal care, far exceeding any other documented antecedents, and acting as the most common trigger for four of the nine clients who exhibited aggression. For the remaining five clients, there was intraindividual heterogeneity in susceptibility to specific antecedents. In Huntington's sufferers at mid- to late stages following disease onset, particular care should be made with personal care assistance due to the propensity for these procedures to elicit an episode of aggression. However, given the degree of intraindividual heterogeneity in susceptibility to specific antecedents observed in the present study, individualised behaviour support plans and sensory modulation interventions may be the most useful in identifying triggers and managing aggressive episodes. Rates of aggression in Huntington's disease inpatients can be high. Knowledge of potential triggers, such as personal care, is important for nursing and care staff, so that attempts can be

[Transition in the midwifery profession. 25. The prewar birth control movement and the concept of eugenics].

Science.gov (United States)

Obayashi, M

1987-08-01

The concept of eugenics played a significant role in the pre-war birth control movement. Some favored birth control from the standpoint of an individual's right to happiness, while others were against it from the standpoint of preservation of good stock for the nation. Yamamoto, Nobuharu (1889-1929), who translated Margaret Sanger's speech and her book in 1922, advocated birth control purely from a biologist's point of view. Birth control is necessary for the survival of strong healthy human beings capable of overcoming all the difficulties in their lives. Birth control is a form of natural selection consciously done to avoid overburdening and wasting individual lives. Nagai, Sen (1876-1957) was opposed to birth control from eugenicc' point of view. He became the 1st president of Japan Racial Hygiene Society in 1930 and founded Eugenics/Marriage Counseling Clinic in 1933. In his book on eugenics published in 1936 he stressed the importance of continuation of race by protecting good stock and eliminating poor stock by sterilization. Birth control was opposed because it will shorten the life of an ethnic group or a race. Furuya, Yoshio (1890-1974), also a racial hygiene major, supported population policies based on eugenics. He studied a trend in childbirth among women of different professions and geographical areas. Educated and cultured urban upper-middle class women showed a sudden decline in childbirth in their later years of marriage, suggesting the prevalence of birth control among them, while less educated low-income women continued to reproduce. He opposed to birth control but was in favor of sterilization for eliminating poor stock.

Hereditarian Ideas and Eugenic Ideals at the National Deaf-Mute College

Science.gov (United States)

Ennis, William Thomas, III

2015-01-01

For the past two centuries deaf people in the United States have faced more or less intense skepticism about their marriages to each other, largely due to fears of inherited deafness. These fears, while always present, have waxed and waned over time, becoming most prominent during the eugenics era of the late nineteenth and early twentieth…

Family caregivers' views on coordination of care in Huntington's disease

DEFF Research Database (Denmark)

Røthing, Merete; Malterud, Kirsti; Frich, Jan C

2015-01-01

BACKGROUND: Collaboration between family caregivers and health professionals in specialised hospitals or community-based primary healthcare systems can be challenging. During the course of severe chronic disease, several health professionals might be involved at a given time, and the patient......'s illness may be unpredictable or not well understood by some of those involved in the treatment and care. AIM: The aim of this study was to explore the experiences and expectations of family caregivers for persons with Huntington's disease concerning collaboration with healthcare professionals. METHODS......: To shed light on collaboration from the perspectives of family caregivers, we conducted an explorative, qualitative interview study with 15 adult participants experienced from caring for family members in all stages of Huntington's disease. Data were analysed with systematic text condensation, a cross...

From political economy to sociology: Francis Galton and the social-scientific origins of eugenics.

Science.gov (United States)

Renwick, Chris

2011-09-01

Having coined the word 'eugenics' and inspired leading biologists and statisticians of the early twentieth century, Francis Galton is often studied for his contributions to modern statistical biology. However, whilst documenting this part of his work, historians have frequently neglected crucial aspects of what motivated Galton to establish his eugenics research programme. Arguing that his work was shaped more by social than by biological science, this paper addresses these oversights by tracing the development of Galton's programme, from its roots in a debate about political economy to his appeals for it to be taken up by sociologists. In so doing, the paper not only returns Galton's ideas to their original context but also provides a reason to reflect on the place of the social sciences in history-of-science scholarship.

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

OpenAIRE

Hensman Moss, Davina J; Pardinas, Antonio; Langbehn, Douglas; Lo, Kitty; Leavitt, Blair R; Roos, Raymund; Durr, Alexandra; Mead, Simon; Holmans, Peter; Jones, Lesley; Tabrizi, Sarah J; Coleman, A; Santos, R Dar; Decolongon, J; Sturrock, A

2017-01-01

Background\\ud \\ud Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure.\\ud \\ud Methods\\ud \\ud We generated a progression score on the basis of principal ...

Inherently Undesirable: American Identity and the Role of Negative Eugenics in the Education of Visually Impaired and Blind Students in Ohio, 1870-1930

Science.gov (United States)

Free, Jennifer L.

2012-01-01

To date, studies of eugenics artificially confine their focus to the movement's application to race, socio-economic status, and the forced sterilization of the so-called feebleminded. However, the segregationist aspect of the eugenics design in the United States brought with it damaging policies toward individuals with physical and mental…

From the 'Village of a Thousand Souls' to 'Race Crossing in Jamaica': Arnold Gesell, eugenics and child development.

Science.gov (United States)

Weizmann, Fredric

2010-01-01

Perhaps best known for providing age-related norms in early development, norms that are still used as a basis for measures of developmental maturity, Arnold Gesell was a key figure in developmental psychology from the 1920s through the 1950s. After examining Gesell's reputation and status in the field, we explore Gesell's changing relationship to eugenics, both in terms of Gesell's often contradictory attitudes about the role of hereditary and environmental influences in development, and in terms of the broader relationship between the eugenics movement and science.

Palliative Care in Huntington Disease: Personal Reflections and a Review of the Literature

Directory of Open Access Journals (Sweden)

Christopher G. Tarolli

2017-04-01

Full Text Available Background Huntington disease is a fatal, autosomal dominant, neurodegenerative disorder manifest by the triad of a movement disorder, behavioral disturbances, and dementia. At present, no curative or disease modifying therapies exist for the condition and current treatments are symptomatic. Palliative care is an approach to care that focuses on symptom relief, patient and caregiver support, and end of life care. There is increasing evidence of the benefit of palliative care throughout the course of neurodegenerative conditions including Parkinson disease and amyotrophic lateral sclerosis. However, beyond its application at the end of life, little is known about the role of palliative care in Huntington disease.Methods In this article, we discuss what is known about palliative care in Huntington disease, specifically related to early disease burden, caregiver burnout, advance care planning, and end of life care.Results We provide a review of the current literature and discuss our own care practices.Discussion We conclude by discussing questions that remain unanswered and positing ideas for future work in the field.

Huntington Revisited: Is Conservative Realism Still Essential for the Military Ethic

National Research Council Canada - National Science Library

Mahoney-Norris, Kathleen A

2001-01-01

...). Furthermore, Huntington has developed what appears to be a powerful argument as to why conservative realism should be considered a fundamental component of the professional ethic of the military officer...

A not-so-new eugenics. Harris and Savulescu on human enhancement.

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Sparrow, Robert

2011-01-01

John Harris and Julian Savulescu, leading figures in the "new' eugenics, argue that parents are morally obligated to use genetic and other technologies to enhance their children. But the argument they give leads to conclusions even more radical than they acknowledge. Ultimately, the world it would lead to is not all that different from that championed by eugenicists one hundred years ago.

Thoughts on the Changing Meaning of Disability: New Eugenics or New Wholeness?

Science.gov (United States)

Smith, J. David

1999-01-01

Reviews the impact of eugenics on people with disabilities and the danger that they will be further devalued in a world of increasing genetic manipulation. Margaret Mead's concept of providing opportunities for all people to learn how to participate wholly in society and the need for an ethical revolution are discussed. (CR)

The use of stem cells in regenerative medicine for Parkinson's and Huntington's Diseases.

Science.gov (United States)

Lescaudron, L; Naveilhan, P; Neveu, I

2012-01-01

Cell transplantation has been proposed as a means of replacing specific cell populations lost through neurodegenerative processes such as that seen in Parkinson's or Huntington's diseases. Improvement of the clinical symptoms has been observed in a number of Parkinson and Huntington's patients transplanted with freshly isolated fetal brain tissue but such restorative approach is greatly hampered by logistic and ethical concerns relative to the use of fetal tissue, in addition to potential side effects that remain to be controlled. In this context, stem cells that are capable of self-renewal and can differentiate into neurons, have received a great deal of interest, as demonstrated by the numerous studies based on the transplantation of neural stem/progenitor cells, embryonic stem cells or mesenchymal stem cells into animal models of Parkinson's or Huntington's diseases. More recently, the induction of pluripotent stem cells from somatic adult cells has raised a new hope for the treatment of neurodegenerative diseases. In the present article, we review the main experimental approaches to assess the efficiency of cell-based therapy for Parkinson's or Huntington's diseases, and discuss the recent advances in using stem cells to replace lost dopaminergic mesencephalic or striatal neurons. Characteristics of the different stem cells are extensively examined with a special attention to their ability of producing neurotrophic or immunosuppressive factors, as these may provide a favourable environment for brain tissue repair and long-term survival of transplanted cells in the central nervous system. Thus, stem cell therapy can be a valuable tool in regenerative medicine.

Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease

DEFF Research Database (Denmark)

Aziz, N A; Jurgens, C K; Landwehrmeyer, G B

2009-01-01

OBJECTIVE: Huntington disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG repeat expansion in the HD gene (HTT). We aimed to assess whether interaction between CAG repeat sizes in the mutant and normal allele could affect disease severity and progression. METHODS: Using...... with less severe symptoms and pathology. CONCLUSIONS: Increasing CAG repeat size in normal HTT diminishes the association between mutant CAG repeat size and disease severity and progression in Huntington disease. The underlying mechanism may involve interaction of the polyglutamine domains of normal...

Willis Eugene Lamb (1913 - 2008) - Passion for precision

International Nuclear Information System (INIS)

Pain, J.C.

2013-01-01

In 1947, Willis Eugene Lamb with Robert Retherford measured a gap between the 2 fine structure levels 2s(1/2) and 2p(1/2) of the hydrogen atom while the Dirac equations gave them the same energy. This discovery called 'Lamb shift' was a driving factor for the development of quantum electrodynamics after the second world war. Lamb has also contributed to various fields of quantum physics, he studied the ejection of electrons by metastable atoms and also the Bose-Einstein condensation. In 1939, he predicted nuclear transitions that led to the discovery of the Moessbauer effect 22 years later

Hypocretin and melanin-concentrating hormone in patients with Huntington disease.

NARCIS (Netherlands)

Aziz, A.; Fronczek, R.; Maat-Schieman, M.L.; Unmehopa, U.A.; Roelandse, F.W.; Overeem, S.; Duinen, S.G. van; Lammers, G.J.; Swaab, D.F.; Roos, R.A.C.

2008-01-01

To evaluate whether hypocretin-1 (orexin-A) and melanin-concentrating hormone (MCH) neurotransmission are affected in patients with Huntington disease (HD), we immunohistochemically stained hypocretin and MCH neurons and estimated their total numbers in the lateral hypothalamus of both HD patients

Presence of tau pathology within foetal neural allografts in patients with Huntington's and Parkinson's disease.

Science.gov (United States)

Cisbani, Giulia; Maxan, Alexander; Kordower, Jeffrey H; Planel, Emmanuel; Freeman, Thomas B; Cicchetti, Francesca

2017-11-01

Cell replacement has been explored as a therapeutic strategy to repair the brain in patients with Huntington's and Parkinson's disease. Post-mortem evaluations of healthy grafted tissue in such cases have revealed the development of Huntington- or Parkinson-like pathology including mutant huntingtin aggregates and Lewy bodies. An outstanding question remains if tau pathology can also be seen in patients with Huntington's and Parkinson's disease who had received foetal neural allografts. This was addressed by immunohistochemical/immunofluorescent stainings performed on grafted tissue of two Huntington's disease patients, who came to autopsy 9 and 12 years post-transplantation, and two patients with Parkinson's disease who came to autopsy 18 months and 16 years post-transplantation. We show that grafts also contain tau pathology in both types of transplanted patients. In two patients with Huntington's disease, the grafted tissue showed the presence of hyperphosphorylated tau [both AT8 (phospho-tau Ser202 and Thr205) and CP13 (pSer202) immunohistochemical stainings] pathological inclusions, neurofibrillary tangles and neuropil threads. In patients with Parkinson's disease, the grafted tissue was characterized by hyperphosphorylated tau (AT8; immunofluorescent staining) pathological inclusions, neurofibrillary tangles and neuropil threads but only in the patient who came to autopsy 16 years post-transplantation. Abundant tau-related pathology was observed in the cortex and striatum of all cases studied. While the striatum of the grafted Huntington's disease patient revealed an equal amount of 3-repeat and 4-repeat isoforms of tau, the grafted tissue showed elevated 4-repeat isoforms by western blot. This suggests that transplants may have acquired tau pathology from the host brain, although another possibility is that this was due to acceleration of ageing. This finding not only adds to the recent reports that tau pathology is a feature of these neurodegenerative

An Evil Hitherto Unchecked: Eugenics and the 1917 Ontario Royal Commission on the Care and Control of the Mentally Defective and Feeble-Minded.

Science.gov (United States)

Koester, C Elizabeth

2016-01-01

In 1917, the Ontario government appointed the Royal Commission on the Care and Control of the Mentally Defective and Feeble-Minded, headed by Justice Frank Hodgins. Its final report made wide-ranging recommendations regarding the segregation of feeble-minded individuals, restrictions on marriage, the improvement of psychiatric facilities, and the reform of the court system, all matters of great concern to the eugenics movement. At the same time, however, it refrained from using explicitly eugenic vocabulary and ignored the question of sterilization. This article explores the role the commission played in the trajectory of eugenics in Ontario (including the province's failure to pass sterilization legislation) and considers why its recommendations were disregarded.

[Eugen Helimski, Urlike Kahrs. Nordselkupisches Wörterbuch von F. G. Mal'cev (1903)] / Ago Künnap

Index Scriptorium Estoniae

Künnap, Ago, 1941-

2003-01-01

Raamatust: Helimski, Eugen, Kahrs, Urlike. Nordselkupisches Wörterbuch von F. G. Mal'cev (1903). Hamburg, 2001. (Hamburger Sibirische und Finnisch-Ugrische Materialen / Habent Sua Fata Manuscripts; 1)

Randomized controlled trial of ethyl-eicosapentaenoic acid in Huntington disease: the TREND-HD study.

Science.gov (United States)

2008-12-01

To determine whether ethyl-eicosapentaenoic acid (ethyl-EPA), an omega-3 fatty acid, improves the motor features of Huntington disease. Six-month multicenter, randomized, double-blind, placebo-controlled trial followed by a 6-month open-label phase without disclosing initial treatment assignments. Forty-one research sites in the United States and Canada. Three hundred sixteen adults with Huntington disease, enriched for a population with shorter trinucleotide (cytosine-adenine-guanine) repeat length expansions. Random assignment to placebo or ethyl-EPA, 1 g twice a day, followed by open-label treatment with ethyl-EPA. Six-month change in the Total Motor Score 4 component of the Unified Huntington's Disease Rating Scale analyzed for all research participants and those with shorter cytosine-adenine-guanine repeat length expansions (<45). At 6 months, the Total Motor Score 4 point change for patients receiving ethyl-EPA did not differ from that for those receiving placebo. No differences were found in measures of function, cognition, or global impression. Before public disclosure of the 6-month placebo-controlled results, 192 individuals completed the open-label phase. The Total Motor Score 4 change did not worsen for those who received active treatment for 12 continuous months compared with those who received active treatment for only 6 months (2.0-point worsening; P=.02). Ethyl-EPA was not beneficial in patients with Huntington disease during 6 months of placebo-controlled evaluation. Clinical Trial Registry clinicaltrials.gov Identifier: NCT00146211.

Screening for mental illness: the merger of eugenics and the drug industry.

Science.gov (United States)

Sharav, Vera Hassner

2005-01-01

The implementation of a recommendation by the President's New Freedom Commission (NFC) to screen the entire United States population--children first--for presumed, undetected, mental illness is an ill-conceived policy destined for disastrous consequences. The "pseudoscientific" methods used to screen for mental and behavioral abnormalities are a legacy from the discredited ideology of eugenics. Both eugenics and psychiatry suffer from a common philosophical fallacy that undermines the validity of their theories and prescriptions. Both are wed to a faith-based ideological assumption that mental and behavioral manifestations are biologically determined, and are, therefore, ameliorated by biological interventions. NFC promoted the Texas Medication Algorithm Project (TMAP) as a "model" medication treatment plan. The impact of TMAP is evident in the skyrocketing increase in psychotropic drug prescriptions for children and adults, and in the disproportionate expenditure for psychotropic drugs. The New Freedom Commission's screening for mental illness initiative is, therefore, but the first step toward prescribing drugs. The escalating expenditure for psychotropic drugs since TMAP leaves little doubt about who the beneficiaries of TMAP are. Screening for mental illness will increase their use.

Remifentanil in a patient with Huntington's chorea - case report ...

African Journals Online (AJOL)

Relatively few published case reports related to the anaesthetic management of Huntington's chorea (HC) exist. At the time of surgery no publications were found related to remifentanil's use in patients with HC. This case report describes the management of a confirmed HC patient requiring urgent decompression of a spinal ...

High Protein Diet and Huntington's Disease.

Directory of Open Access Journals (Sweden)

Chiung-Mei Chen

Full Text Available Huntington's disease (HD is a neurodegenerative disorder caused by the huntingtin (HTT gene with expanded CAG repeats. In addition to the apparent brain abnormalities, impairments also occur in peripheral tissues. We previously reported that mutant Huntingtin (mHTT exists in the liver and causes urea cycle deficiency. A low protein diet (17% restores urea cycle activity and ameliorates symptoms in HD model mice. It remains unknown whether the dietary protein content should be monitored closely in HD patients because the normal protein consumption is lower in humans (~15% of total calories than in mice (~22%. We assessed whether dietary protein content affects the urea cycle in HD patients. Thirty HD patients were hospitalized and received a standard protein diet (13.7% protein for 5 days, followed by a high protein diet (HPD, 26.3% protein for another 5 days. Urea cycle deficiency was monitored by the blood levels of citrulline and ammonia. HD progression was determined by the Unified Huntington's Disease Rating Scale (UHDRS. The HPD increased blood citrulline concentration from 15.19 μmol/l to 16.30 μmol/l (p = 0.0378 in HD patients but did not change blood ammonia concentration. A 2-year pilot study of 14 HD patients found no significant correlation between blood citrulline concentration and HD progression. Our results indicated a short period of the HPD did not markedly compromise urea cycle function. Blood citrulline concentration is not a reliable biomarker of HD progression.

Psychodynamic theory and counseling in predictive testing for Huntington's disease.

Science.gov (United States)

Tassicker, Roslyn J

2005-04-01

This paper revisits psychodynamic theory, which can be applied in predictive testing counseling for Huntington's Disease (HD). Psychodynamic theory has developed from the work of Freud and places importance on early parent-child experiences. The nature of these relationships, or attachments are reflected in adult expectations and relationships. Two significant concepts, identification and fear of abandonment, have been developed and expounded by the psychodynamic theorist, Melanie Klein. The processes of identification and fear of abandonment can become evident in predictive testing counseling and are colored by the client's experience of growing up with a parent affected by Huntington's Disease. In reflecting on family-of-origin experiences, clients can also express implied expectations of the future, and future relationships. Case examples are given to illustrate the dynamic processes of identification and fear of abandonment which may present in the clinical setting. Counselor recognition of these processes can illuminate and inform counseling practice.

A genome-scale RNA-interference screen identifies RRAS signaling as a pathologic feature of Huntington's disease.

Directory of Open Access Journals (Sweden)

John P Miller

Full Text Available A genome-scale RNAi screen was performed in a mammalian cell-based assay to identify modifiers of mutant huntingtin toxicity. Ontology analysis of suppressor data identified processes previously implicated in Huntington's disease, including proteolysis, glutamate excitotoxicity, and mitochondrial dysfunction. In addition to established mechanisms, the screen identified multiple components of the RRAS signaling pathway as loss-of-function suppressors of mutant huntingtin toxicity in human and mouse cell models. Loss-of-function in orthologous RRAS pathway members also suppressed motor dysfunction in a Drosophila model of Huntington's disease. Abnormal activation of RRAS and a down-stream effector, RAF1, was observed in cellular models and a mouse model of Huntington's disease. We also observe co-localization of RRAS and mutant huntingtin in cells and in mouse striatum, suggesting that activation of R-Ras may occur through protein interaction. These data indicate that mutant huntingtin exerts a pathogenic effect on this pathway that can be corrected at multiple intervention points including RRAS, FNTA/B, PIN1, and PLK1. Consistent with these results, chemical inhibition of farnesyltransferase can also suppress mutant huntingtin toxicity. These data suggest that pharmacological inhibition of RRAS signaling may confer therapeutic benefit in Huntington's disease.

The Killing Thought in the Eugenic Era and Today: A Commentary on Hollander's Essay.

Science.gov (United States)

Wolfensberger, Wolf

1989-01-01

Two responses to Hollander (EC 220 057) and the author's counter-response note similarities between "mercy killing" of people with mental retardation and deliberate abortion of the unborn, misuse of the history of eugenics, and a defense of the author's historical scholarship. (DB)

Ectrodactyly and Germany's eugenics law of 14 July 1933

DEFF Research Database (Denmark)

Busch, Roland; Kjær, Klaus Wilbrandt

2002-01-01

for an adopted daughter, the propositus was childless. His two affected brothers each had an affected child, and the father- to son transmission confirmed the hypothesis of autosomal dominant inheritance. The issue of nonpenetrance versus germinal mosaicism in ectrodactyly was debated by Auerbach [1956:Ann Hum......The family reported herein serves as a genetically and historically important vignette on the issues of nonpenetrance (versus germinal mosaicism) in nonsyndromic autosomal dominant ectrodactyly and the Eugenics Law of Germany of 14 July 1933, which was used to coerce the sterilization...

Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder.

Science.gov (United States)

Ramos, Eliana Marisa; Gillis, Tammy; Mysore, Jayalakshmi S; Lee, Jong-Min; Alonso, Isabel; Gusella, James F; Smoller, Jordan W; Sklar, Pamela; MacDonald, Marcy E; Perlis, Roy H

2015-06-01

Huntington's disease is a neurodegenerative disorder characterized by motor, cognitive, and psychiatric symptoms that are caused by huntingtin gene (HTT) CAG trinucleotide repeat alleles of 36 or more units. A greater than expected prevalence of incompletely penetrant HTT CAG repeat alleles observed among individuals diagnosed with major depressive disorder raises the possibility that another mood disorder, bipolar disorder, could likewise be associated with Huntington's disease. We assessed the distribution of HTT CAG repeat alleles in a cohort of individuals with bipolar disorder. HTT CAG allele sizes from 2,229 Caucasian individuals diagnosed with DSM-IV bipolar disorder were compared to allele sizes in 1,828 control individuals from multiple cohorts. We found that HTT CAG repeat alleles > 35 units were observed in only one of 4,458 chromosomes from individuals with bipolar disorder, compared to three of 3,656 chromosomes from control subjects. These findings do not support an association between bipolar disorder and Huntington's disease. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Refrigerator Mothers and Sick Little Boys: Bruno Bettelheim, Eugenics and the De-Pathologization of Jewish Identity

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griffin jaye epstein

2014-06-01

Full Text Available Child psychologist and Nazi concentration camp survivor Bruno Bettelheim’s influential theories of autism reveal a startling connection between Jewish identity, the medicalization of disability, colonial eugenics and race-making practices over the 20th century in North America. Using Bettelheim’s life and work as a case-study, this paper explores Ashkenazi Jewish immigrant complicity in a whitened colonial landscape through the lens of Disability Studies. It asks the question: can we be more accountable to our disabled identities – and to those disabled people who have come before us – if we learn how our families, our identities, our very selves have been complicit in medicalization and violence?  Keywords: madness, race, whiteness, Jewish identity, eugenics, psychiatry

The social and economic origins of genetic determinism: a case history of the American Eugenics Movement, 1900-1940 and its lessons for today.

Science.gov (United States)

Allen, G E

1997-01-01

Eugenics, the attempt to improve the genetic quality of the human species by 'better breeding', developed as a worldwide movement between 1900 and 1940. It was particularly prominent in the United States, Britain and Germany, and in those countries was based on the then-new science of Mendelian genetics. Eugenicists developed research programs to determine the degree in which traits such as Huntington's chorea, blindness, deafness, mental retardation (feeblemindedness), intelligence, alcoholism, schizophrenia, manic depression, rebelliousness, nomadism, prostitution and feeble inhibition were genetically determined. Eugenicists were also active in the political arena, lobbying in the United States for immigration restriction and compulsory sterilization laws for those deemed genetically unfit; in Britain they lobbied for incarceration of genetically unfit and in Germany for sterilization and eventually euthanasia. In all these countries one of the major arguments was that of efficiency: that it was inefficient to allow genetic defects to be multiplied and then have to try and deal with the consequences of state care for the offspring. National socialists called genetically defective individuals 'useless eaters' and argued for sterilization or euthanasia on economic grounds. Similar arguments appeared in the United States and Britain as well. At the present time (1997) much research and publicity is being given to claims about a genetic basis for all the same behaviors (alcoholism, manic depression, etc.), again in an economic context--care for people with such diseases is costing too much. There is an important lesson to learn from the past: genetic arguments are put forward to mask the true--social and economic--causes of human behavioral defects.

Beyond eugenics: the forgotten scandal of hybridizing humans and apes.

Science.gov (United States)

Etkind, Alexander

2008-06-01

This paper examines the available evidence on one of the most radical ideas in the history of eugenics and utopianism. In the mid-1920s, the zoology professor Ilia Ivanov submitted to the Soviet government a project for hybridizing humans and apes by means of artificial insemination. He received substantial financing and organized expeditions to Africa to catch apes for his experiments. His project caused an international sensation. The American Association for the Advancement of Atheism announced its fund-raising campaign to support Ivanov's project but gave it a scandalously racist interpretation. Ivanov's own motivation remained unclear, as did the motivation of those in the Bolshevik government who supported Ivanov until his arrest in 1930. This paper discusses three hypothetical reasons for Ivanov's adventure: first, hybridization between humans and apes, should it be successful, would support the atheist propaganda of the Bolsheviks; second, regardless of the success of hybridization, Ivanov would catch and bring to Russia apes, which were necessary for the rejuvenation programs that were fashionable among the Bolshevik elite; and third, hybridization, should it be successful, would pave the way to the New Socialist Man whose 'construction by scientific means' was the official purpose of the Bolsheviks. Ivanov's ideas were arguably important for the American proponent of reform eugenics, Herman Muller, and for the Soviet anthropologist Boris Porshnev.

The Effect of Music Therapy in Patients with Huntington's Disease: A Randomized Controlled Trial.

Science.gov (United States)

van Bruggen-Rufi, Monique C H; Vink, Annemieke C; Wolterbeek, Ron; Achterberg, Wilco P; Roos, Raymund A C

2017-01-01

Music therapy may have beneficial effects on improving communication and expressive skills in patients with Huntington's disease (HD). Most studies are, however, small observational studies and methodologically limited. Therefore we conducted a multi-center randomized controlled trial. To determine the efficacy of music therapy in comparison with recreational therapy in improving quality of life of patients with advanced Huntington's disease by means of improving communication. Sixty-three HD-patients with a Total Functional Capacity (TFC) score of ≤7, admitted to four long-term care facilities in The Netherlands, were randomized to receive either group music therapy or group recreational therapy in 16 weekly sessions. They were assessed at baseline, after 8, 16 and 28 weeks using the Behaviour Observation Scale for Huntington (BOSH) and the Problem Behaviour Assessment-short version (PBA-s). A linear mixed model with repeated measures was used to compare the scores between the two groups. Group music therapy offered once weekly for 16 weeks to patients with Huntington's disease had no additional beneficial effect on communication or behavior compared to group recreational therapy. This was the first study to assess the effect of group music therapy on HD patients in the advanced stages of the disease. The beneficial effects of music therapy, recorded in many, mainly qualitative case reports and studies, could not be confirmed with the design (i.e. group therapy vs individual therapy) and outcome measures that have been used in the present study. A comprehensive process-evaluation alongside the present effect evaluation is therefore performed.

"One of the Most Uniform Races of the Entire World": Creole Eugenics and the Myth of Chilean Racial Homogeneity.

Science.gov (United States)

Walsh, Sarah

2015-11-01

This article illuminates why Nicolás Palacios's 1904 monograph, Raza chilena: Libro escrito por un Chileno i para los Chilenos [Chilean Race: A Book Written by a Chilean for Chileans], is central to the creation of a myth of Chilean racial homogeneity at the turn of the twentieth century. Placing Palacios in the context of Latin American eugenic discourse, it demonstrates how he selected a specific racial origin story in order to accommodate his belief in racial hierarchy while also depicting race mixing in a positive light. Specifically, the article highlights how the myth of Chilean racial homogeneity elided the difference between the term "mestizo," which was applied to people of mixed racial heritage, and "white." I contend that Palacios sought to differentiate Chileans from other Latin Americans by emphasizing their racial distinctiveness. The article therefore highlights that Latin American eugenics was concerned with the creation of national narratives that historicized particular racial mixtures in order to reify and affirm national differences. As such, it connects to literature regarding the history of eugenics, race, nation, and the creation of whiteness.

Throwing the baby out with the bathwater: a critique of Sparrow's inclusive definition of the term 'in vitro eugenics'.

Science.gov (United States)

Fujita, Misao; Yashiro, Yoshimi; Suzuki, Mika

2014-11-01

Sparrow highlights three potential applications of in vitro eugenics, that is, (a) research into the heredity of genetic disorders, (b) production of cell lines with specific genotypes, and (c) breeding better babies, and points to the need for researchers to discuss in advance the potential ethical problems that may emerge if the realization of this technology occurs in the near future. In this commentary, we pose a question for the sake of discussion. Is it, in fact, appropriate to label all three applications raised by Sparrow as eugenics? By doing so, an unnecessary level of concern might be borne among the public, and as a result, the sound development of this specialized technology would be affected. If the label of eugenics is to be applied to all three of these applications, then Sparrow must justify how he perceives (a) and (b) as not inherently different from (c). Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Education Policy and Biological Science: Genetics, Eugenics, and the College Textbook, c. 1908-1931.

Science.gov (United States)

Selden, Steven

1985-01-01

A revolution in genetics is occurring, but when looking ahead, we must not romanticize the past. The social history of genetics, and American education's association with eugenics, make it necessary that we understand that both education and science are informed by social attitudes. (MT)

Functional Compensation of Motor Function in Pre-Symptomatic Huntington's Disease

Science.gov (United States)

Kloppel, Stefan; Draganski, Bogdan; Siebner, Hartwig R.; Tabrizi, Sarah J.; Weiller, Cornelius; Frackowiak, Richard S. J.

2009-01-01

Involuntary choreiform movements are a clinical hallmark of Huntington's disease. Studies in clinically affected patients suggest a shift of motor activations to parietal cortices in response to progressive neurodegeneration. Here, we studied pre-symptomatic gene carriers to examine the compensatory mechanisms that underlie the phenomenon of…

The Hunt for Disability: The New Eugenics and the Normalization of School Children.

Science.gov (United States)

Baker, Bernadette

2002-01-01

Examines issues of sameness, difference, equality, and democracy in present public school systems, focusing on the question of (dis)ability and implications of rethinking (dis)ability as an ontological issue before its inscription as an educational one concerning the politics of inclusion. The paper analyzes old and new discourses of eugenics as…

Challenges of Huntington's disease and quest for therapeutic biomarkers

Czech Academy of Sciences Publication Activity Database

Kotrčová, Eva; Jarkovská, Karla; Valeková, Ivona; Žižková, Martina; Motlík, Jan; Gadher, S. J.; Kovářová, Hana

2015-01-01

Roč. 9, 1-2 (2015), s. 147-158 ISSN 1862-8346 R&D Projects: GA MŠk ED2.1.00/03.0124; GA TA ČR(CZ) TA01011466 Institutional support: RVO:67985904 Keywords : HD biomarkers * Huntington´s disease * Huntingtin neurotoxicity * Huntingtin pathogenesis Subject RIV: FH - Neurology Impact factor: 2.959, year: 2015

Vertraagde diagnose van de ziekte van Huntington in een psychiatrische setting

NARCIS (Netherlands)

Tak, L M; Sizoo, B; de Stegge, B M Aan; Adema, S; van Duijn, E; Kremer, B

2017-01-01

Huntington's disease (hd) is characterised by a triad of neuropsychiatric symptoms, motor disturbances and cognitive decline. If initial symptoms are of neuropsychiatric nature they maybe misinterpreted, which can lead to delayed diagnosis. Three examples of delayed hd diagnosis in a psychiatric

Luis Huerta: eugenesia, medicina y pedagogía en España Luis Huerta: Eugenics, Medicine and Pedagogy in Spain

Directory of Open Access Journals (Sweden)

Luis Miguel LÁZARO LORENTE

2013-07-01

Full Text Available En contraste con lo observable en la historiografía de otros países europeos y anglosajones, el estudio de la introducción y difusión de los principios y prácticas de la Eugenesia, como tema de investigación, no ha contado en España con muchos cultivadores. Menos todavía han sido objeto de estudio las relaciones del pensamiento eugénico con el ámbito pedagógico para indagar la recepción que tiene entre el Magisterio, y conocer el conjunto de reacciones que provoca, así como la participación de los maestros en la potencial difusión de sus planteamientos. Se aborda aquí una aproximación a ese tema centrando el análisis en las relaciones que en la España del primer tercio del siglo XX se establecen entre Medicina, Pedagogía y Eugenesia. Para ello tomamos como referente e hilo conductor la figura y el pensamiento del maestro asturiano Luis Huerta Naves, decidido impulsor y propagandista incansable de la Eugenesia en nuestro país.By comparison with the historiography of other European and Anglo-Saxon countries, the study of the origins and spread of Eugenics in Spain has not received much attention. Even less research has been done on the degree of acceptance of eugenic thought in the pedagogical domain or on the role teachers may have in the diffusion of eugenics. This paper attempts to explore the subject while focusing the analysis on the relations that were established among Medicine, Pedagogy and Eugenics in Spain during the first third of the 20th century. We will take as a point of reference and guiding line of thought the figure of the Asturian teacher Luis Huerta Naves, who was the driving force and tireless advocate of the eugenics movement in our country.

Proceedings of the National Silviculture Workshop: Density of Stocking Control; Eugene, Oregon; October 13-15, 1976

Science.gov (United States)

Jack H. Usher; Daniel B. Jones; A. R. Stage; Benjamin A. Roach; Gilbert B. Schubert; Darrell W. Crawford; Gilbert H. Schubert; Walter Fox; Edward A. Smith; Richard E. Lowrey Sofes; Richard F. Watt

1976-01-01

The 1976 National Silviculture Workshop was held in Eugene, Oregon, on October 13-15, 1976. The objectives were to discuss second growth management of individual stands, with particular emphasis on the control of stand density.

The Human Genome Project and Eugenics: Identifying the Impact on Individuals with Mental Retardation.

Science.gov (United States)

Kuna, Jason

2001-01-01

This article explores the impact of the mapping work of the Human Genome Project on individuals with mental retardation and the negative effects of genetic testing. The potential to identify disabilities and the concept of eugenics are discussed, along with ethical issues surrounding potential genetic therapies. (Contains references.) (CR)

Survival End Points for Huntington Disease Trials Prior to a Motor Diagnosis.

Science.gov (United States)

Long, Jeffrey D; Mills, James A; Leavitt, Blair R; Durr, Alexandra; Roos, Raymund A; Stout, Julie C; Reilmann, Ralf; Landwehrmeyer, Bernhard; Gregory, Sarah; Scahill, Rachael I; Langbehn, Douglas R; Tabrizi, Sarah J

2017-11-01

Predictive genetic testing in Huntington disease (HD) enables therapeutic trials in HTT gene expansion mutation carriers prior to a motor diagnosis. Progression-free survival (PFS) is the composite of a motor diagnosis or a progression event, whichever comes first. To determine if PFS provides feasible sample sizes for trials with mutation carriers who have not yet received a motor diagnosis. This study uses data from the 2-phase, longitudinal cohort studies called Track and from a longitudinal cohort study called the Cooperative Huntington Observational Research Trial (COHORT). Track had 167 prediagnosis mutation carriers and 156 noncarriers, whereas COHORT had 366 prediagnosis mutation carriers and noncarriers. Track studies were conducted at 4 sites in 4 countries (Canada, France, England, and the Netherlands) from which data were collected from January 17, 2008, through November 17, 2014. The COHORT was conducted at 38 sites in 3 countries (Australia, Canada, and the United States) from which data were collected from February 14, 2006, through December 31, 2009. Results from the Track data were externally validated with data from the COHORT. The required sample size was estimated for a 2-arm prediagnosis clinical trial. Data analysis took place from May 1, 2016, to June 10, 2017. The primary end point is PFS. Huntington disease progression events are defined for the Unified Huntington's Disease Rating Scale total motor score, total functional capacity, symbol digit modalities test, and Stroop word test. Of Track's 167 prediagnosis mutation carriers, 93 (55.6%) were women, and the mean (SD) age was 40.06 (8.92) years; of the 156 noncarriers, 87 (55.7%) were women, and the mean (SD) age was 45.58 (10.30) years. Of the 366 COHORT participants, 229 (62.5%) were women and the mean (SD) age was 42.21 (12.48) years. The PFS curves of the Track mutation carriers showed good external validity with the COHORT mutation carriers after adjusting for initial progression. For

The Eugenics Movement and Its Impact on Art Education in the United States

Science.gov (United States)

Hunter-Doniger, Tracey

2017-01-01

This article argues that the eugenics movement has had three major influences on education in the United States, and reveals how these influences have had an impact on visual arts education in particular. The first influence began with a debate between John Dewey and David Snedden that resulted in a two-tiered tracking system that separated…

First molecular modeling report on novel arylpyrimidine kynurenine monooxygenase inhibitors through multi-QSAR analysis against Huntington's disease: A proposal to chemists!

Science.gov (United States)

Amin, Sk Abdul; Adhikari, Nilanjan; Jha, Tarun; Gayen, Shovanlal

2016-12-01

Huntington's disease (HD) is caused by mutation of huntingtin protein (mHtt) leading to neuronal cell death. The mHtt induced toxicity can be rescued by inhibiting the kynurenine monooxygenase (KMO) enzyme. Therefore, KMO is a promising drug target to address the neurodegenerative disorders such as Huntington's diseases. Fiftysix arylpyrimidine KMO inhibitors are structurally explored through regression and classification based multi-QSAR modeling, pharmacophore mapping and molecular docking approaches. Moreover, ten new compounds are proposed and validated through the modeling that may be effective in accelerating Huntington's disease drug discovery efforts. Copyright © 2016 Elsevier Ltd. All rights reserved.

A distinct species, Dodona formosana, detected in the Dodona eugenes species complex: clarification of the taxonomic status of the Punch butterfly in Taiwan

Science.gov (United States)

Wu, Li-Wei; Lin, Wen-Jie; Hsu, Yu-Feng

2018-01-01

Abstract The Tailed Punch, Dodona eugenes, is widely distributed in East Asia with seven subspecies currently recognized. However, two of them, namely ssp. formosana and ssp. esakii found in Taiwan, are hard to distinguish from each other due to ambiguous diagnostic characters. In this study, their taxonomic status is clarified by comparing genitalia characters and phylogenetic relationships based on mitochondrial sequences, COI and COII (total 2211 bps). Our results show that there is no reliable feature to separate these two subspecies. Surprisingly we found that Dodona in Taiwan is more closely related to the Orange Punch, D. egeon, than to other subspecies of D. eugenes. Therefore, the following nomenclatural changes are proposed: Dodona eugenes formosana is revised to specific status as Dodona formosana Matsumura, 1919, stat. rev, and ssp. esakii is sunk to a junior synonym of Dodona formosana syn. n. PMID:29674868

A distinct species, Dodona formosana, detected in the Dodona eugenes species complex: clarification of the taxonomic status of the Punch butterfly in Taiwan

Directory of Open Access Journals (Sweden)

Li-Wei Wu

2018-02-01

Full Text Available The Tailed Punch, Dodona eugenes, is widely distributed in East Asia with seven subspecies currently recognized. However, two of them, namely ssp. formosana and ssp. esakii found in Taiwan, are hard to distinguish from each other due to ambiguous diagnostic characters. In this study, their taxonomic status is clarified by comparing genitalia characters and phylogenetic relationships based on mitochondrial sequences, COI and COII (total 2211 bps. Our results show that there is no reliable feature to separate these two subspecies. Surprisingly we found that Dodona in Taiwan is more closely related to the Orange Punch, D. egeon, than to other subspecies of D. eugenes. Therefore, the following nomenclatural changes are proposed: Dodona eugenes formosana is revised to specific status as Dodona formosana Matsumura, 1919, stat. rev, and ssp. esakii is sunk to a junior synonym of Dodona formosana syn. n.

Empirical Asset Pricing: Eugene Fama, Lars Peter Hansen, and Robert Shiller

OpenAIRE

Campbell, John Y.

2016-01-01

The Nobel Memorial Prize in Economic Sciences for 2013 was awarded to Eugene Fama, Lars Peter Hansen, and Robert Shiller for their contributions to the empirical study of asset pricing. Some observers have found it hard to understand the common elements of the laureates research, preferring to highlight areas of disagreement among them. This paper argues that empirical asset pricing is a coherent enterprise, which owes much to the laureates seminal contributions, and that important themes in ...

Huntington's Disease in a Patient Misdiagnosed as Conversion Disorder.

Science.gov (United States)

Nogueira, João Machado; Franco, Ana Margarida; Mendes, Susana; Valadas, Anabela; Semedo, Cristina; Jesus, Gustavo

2018-01-01

Huntington's disease (HD) is an inherited, progressive, and neurodegenerative neuropsychiatric disorder caused by the expansion of cytosine-adenine-guanine (CAG) trinucleotide in Interested Transcript (IT) 15 gene on chromosome 4. This pathology typically presents in individuals aged between 30 and 50 years and the age of onset is inversely correlated with the length of the CAG repeat expansion. It is characterized by chorea, cognitive deficits, and psychiatric symptoms. Usually the psychiatric disorders precede motor and cognitive impairment, Major Depressive Disorder and anxiety disorders being the most common presentations. We present a clinical case of a 65-year-old woman admitted to our Psychiatric Acute Unit. During the 6 years preceding the admission, the patient had clinical assessments made several times by different specialties that focused only on isolated symptoms, disregarding the syndrome as a whole. In the course of her last admission, the patient was referred to our Neuropsychiatric Team, which made the provisional diagnosis of late-onset Huntington's disease, later confirmed by genetic testing. This clinical vignette highlights the importance of a multidisciplinary approach to atypical clinical presentations and raises awareness for the relevance of investigating carefully motor symptoms in psychiatric patients.

Colombia en el contexto eugenésico latinoamericano 1900-1950

OpenAIRE

Juan Vianey Tovar Mosquera

2016-01-01

Introducción. La Eugenesia es un acontecimiento histórico que logró mover, una vez más, los fundamentos éticos tradicionales de la humanidad, cuestionando nuestra concepción de lo humano, haciendo de la diferencia, la debilidad o la enfermad una amenaza tangible urgente de normalizar o exterminar. Objetivo. Estudiar la forma como se desarrolló el movimiento eugenésico en Latinoamérica, en países como Argentina, Brasil, Colombia, Cuba, Chile, México y Perú. Materiales y métodos. Artículo de re...

Personality Traits in Huntington's Disease

DEFF Research Database (Denmark)

Larsen, Ida Unmack; Mortensen, Erik Lykke; Vinther-Jensen, Tua

2016-01-01

Huntington's disease (HD) is associated with risk for developing psychiatric symptoms. Vulnerability or resilience to psychiatric symptoms may be associated with personality traits. This exploratory study, aimed to investigate personality traits in a large cohort of HD carriers and at risk gene......-expansion negative individuals (HD non-carriers), exploring whether carrying the HD gene or growing up in an HD family influences personality traits. Forty-seven HD carriers, Thirty-nine HD non-carriers, and 121 healthy controls answered the Danish version of the revised NEO personality inventory. Comparisons...... symptoms. Our findings suggest that, there is no direct effect of the HD gene on personality traits, but that personality assessment may be relevant to use when identifying individuals from HD families who are vulnerable to develop psychiatric symptoms....

Current status of PET imaging in Huntington's disease

International Nuclear Information System (INIS)

Pagano, Gennaro; Niccolini, Flavia; Politis, Marios

2016-01-01

To review the developments of recent decades and the current status of PET molecular imaging in Huntington's disease (HD). A systematic review of PET studies in HD was performed. The MEDLINE, Web of Science, Cochrane and Scopus databases were searched for articles in all languages published up to 19 August 2015 using the major medical subject heading ''Huntington Disease'' combined with text and key words ''Huntington Disease'', ''Neuroimaging'' and ''PET''. Only peer-reviewed, primary research studies in HD patients and premanifest HD carriers, and studies in which clinical features were described in association with PET neuroimaging results, were included in this review. Reviews, case reports and nonhuman studies were excluded. A total of 54 PET studies were identified and analysed in this review. Brain metabolism ([ 18 F]FDG and [ 15 O]H 2 O), presynaptic ([ 18 F]fluorodopa, [ 11 C]β-CIT and [ 11 C]DTBZ) and postsynaptic ([ 11 C]SCH22390, [ 11 C]FLB457 and [ 11 C]raclopride) dopaminergic function, phosphodiesterases ([ 18 F]JNJ42259152, [ 18 F]MNI-659 and [ 11 C]IMA107), and adenosine ([ 18 F]CPFPX), cannabinoid ([ 18 F]MK-9470), opioid ([ 11 C]diprenorphine) and GABA ([ 11 C]flumazenil) receptors were evaluated as potential biomarkers for monitoring disease progression and for assessing the development and efficacy of novel disease-modifying drugs in premanifest HD carriers and HD patients. PET studies evaluating brain restoration and neuroprotection were also identified and described in detail. Brain metabolism, postsynaptic dopaminergic function and phosphodiesterase 10A levels were proven to be powerful in assessing disease progression. However, no single technique may be currently considered an optimal biomarker and an integrative multimodal imaging approach combining different techniques should be developed for monitoring potential neuroprotective and preventive treatment

3-NP-induced neurodegeneration studies in experimental models of Huntington's disease.

NARCIS (Netherlands)

Vis, J.C.

2005-01-01

This thesis investigates the possible role of apoptosis, or programmed cell death, in Huntington's disease (HD). HD is caused by an expanded CAG repeat in the N-terminal region of the huntingtin protein leading to specific neostriatal neurodegeneration. The sequence of events that leads to this

Electronic Transport in Single-Stranded DNA Molecule Related to Huntington's Disease

Science.gov (United States)

Sarmento, R. G.; Silva, R. N. O.; Madeira, M. P.; Frazão, N. F.; Sousa, J. O.; Macedo-Filho, A.

2018-04-01

We report a numerical analysis of the electronic transport in single chain DNA molecule consisting of 182 nucleotides. The DNA chains studied were extracted from a segment of the human chromosome 4p16.3, which were modified by expansion of CAG (cytosine-adenine-guanine) triplet repeats to mimics Huntington's disease. The mutated DNA chains were connected between two platinum electrodes to analyze the relationship between charge propagation in the molecule and Huntington's disease. The computations were performed within a tight-binding model, together with a transfer matrix technique, to investigate the current-voltage (I-V) of 23 types of DNA sequence and compare them with the distributions of the related CAG repeat numbers with the disease. All DNA sequences studied have a characteristic behavior of a semiconductor. In addition, the results showed a direct correlation between the current-voltage curves and the distributions of the CAG repeat numbers, suggesting possible applications in the development of DNA-based biosensors for molecular diagnostics.

Mäletamine, aeglus ja kontrollimatu kapitalism / Eugen Ruge ; intervjueerinud Dieter Neidlinger ; saksa keelest eesti keelde vahendanud Aija Sakova

Index Scriptorium Estoniae

Ruge, Eugen, 1954-

2016-01-01

Intervjuu kirjandusfestivalil "Prima vista" esineva saksa kirjaniku Eugen Rugega tema romaanides "Kahaneva valguse aegu" ("In Zeiten des abnehmenden Lichts") ja "Cabo de Gata" ning käsil olevast teosest

Eugene O'Neill "Pikk päevatee kaob öösse" / Ellu Eik ; interv. Ene Paaver

Index Scriptorium Estoniae

Eik, Ellu

2008-01-01

Seoses Eesti Draamateatri suvelavastusega "Pikk päevatee kaob öösse" (autor Eugene O'Neill ja lavastaja Merle Karusoo) räägib Lääne-Tallinna Keskhaigla Sõltuvusravikeskuse psühhiaater Ellu Eik sõltuvuse tagamaadest ja mõjudest

Huntington's disease does not appear to increase the risk of diabetes mellitus

DEFF Research Database (Denmark)

Boesgaard, T W; Nielsen, Troels Tolstrup; Josefsen, Knud Elnegaard

2009-01-01

Huntington's disease (HD) is an autosomal, dominantly inherited, neurodegenerative disorder characterised by neurological, cognitive and psychiatric symptoms. HD has been associated with diabetes mellitus, which is, to some extent, supported by studies in transgenic HD mice. In transgenic mice...

School hygiene and eugenics: the role of physical education in regenerating the “brazilian race”

Directory of Open Access Journals (Sweden)

Karl M. Lorenz

2012-10-01

Full Text Available From 1870 to 1930, physicians, writers, anthropologists and educators discussed therelationship between education and the less-privileged segments of the Brazilianpopulation. Among ideas circulating in the late nineteenth century were precepts of SchoolHygiene, such as physical exercise could promote personal health and, in a broader sense,the total development of the child. In discussions of eugenic themes in the early decades ofthe twentieth century, Physical Education was further promoted as a corrective measure forthe negative effects of miscegenation; that is, the physical, intellectual and moral debilitiesof the poor and non-white segments of the Brazilian population. This paper examines thenature and effects of the school discipline Physical Education on the less-favored childrenof Brazil by first introducing its role in School Hygiene and then by focusing on itsextended role from the eugenic perspective. In this latter discussion, the racial ideas ofFernando de Azevedo regarding the regenerating effect of Physical Education on the“Brazilian Race” are explored.

Eugene Wigner and nuclear energy: a reminiscence

International Nuclear Information System (INIS)

Weinberg, A.M.

1987-01-01

Dr. Weinberg reviews Wigner's contributions in each of the fields to which he contributed: designs for fast breeders and thermal breeders and some of the earliest calculations on water moderated cooling systems; Clinton Laboratories, 1946-47, The Materials Testing Reactor (MTR); gas-cooled reactors; the Nautilus; Savannah River Reactors, Project Hope; a chemical plant that would reprocess spent fuel at an affordable cost in a full-fledged breeder; reactor physics and general engineering; microscopic reactor theory; spherical harmonics method; correction to the sphericized cell calculation, the fast effect; macroscopic reactor theory; two-group theory; perturbation theory; control rod theory (statics); kinetics; pile oscillator; shielding; fission products; temperature effects; The Wigner-Wilkins Distribution; solid state physics; the Wigner Disease; neutron diffraction; and general energy policy. Eugene Wigner was one of the early contributors to the debate on the role of nuclear power

77 FR 22616 - Huntington Asset Advisors, Inc., et al.; Notice of Application

Science.gov (United States)

2012-04-16

...''), Huntington Strategy Shares (``Trust''), and SEI Investments Distribution Co. Summary of Application.... \\14\\ If Shares are listed on The NASDAQ Stock Market LLC (``Nasdaq'') or a similar electronic Listing... SECURITIES AND EXCHANGE COMMISSION [Investment Company Act Release No. 30032; 812-13785...

Selected CSF biomarkers indicate no evidence of early neuroinflammation in Huntington disease

DEFF Research Database (Denmark)

Vinther-Jensen, Tua; Börnsen, Lars Svend; Budtz-Jorgensen, Esben

2016-01-01

Objective: To investigate CSF biomarkers of neuroinflammation and neurodegeneration in Huntington disease (HD) gene-expansion carriers compared to controls and to investigate these biomarkers in association with clinical HD rating scales and disease burden score. Methods: We collected CSF from 32...

Motor outcome measures in Huntington disease clinical trials.

Science.gov (United States)

Reilmann, Ralf; Schubert, Robin

2017-01-01

Deficits in motor function are a hallmark of Huntington disease (HD). The Unified Huntington's Disease Rating Scale Total Motor Score (UHDRS-TMS) is a categoric clinical rating scale assessing multiple domains of motor disability in HD. The UHDRS-TMS or subsets of its items have served as primary or secondary endpoints in numerous clinical trials. In spite of a well-established video-based annual online certification system, intra- and interrater variability, subjective error, and rater-induced placebo effects remain a concern. In addition, the UHDRS-TMS was designed to primarily assess motor symptoms in manifest HD. Recently, advancement of technology resulted in the introduction of the objective Q-Motor (i.e., Quantitative-Motor) assessments in biomarker studies and clinical trials in HD. Q-Motor measures detected motor signs in blinded cross-sectional and longitudinal analyses of manifest, prodromal, and premanifest HD cohorts up to two decades before clinical diagnosis. In a multicenter clinical trial in HD, Q-Motor measures were more sensitive than the UHDRS-TMS and exhibited no placebo effects. Thus, Q-Motor measures are currently explored in several multicenter trials targeting both symptomatic and disease-modifying mechanisms. They may supplement the UHDRS-TMS, increase the sensitivity and reliability in proof-of-concept studies, and open the door for phenotype assessments in clinical trials in prodromal and premanifest HD. Copyright © 2017 Elsevier B.V. All rights reserved.

Immunogold electron microscopic localization of timothy grass (Phleum pratense) pollen major allergens Phl p I and Phl p V after anhydrous fixation in acrolein vapor

NARCIS (Netherlands)

Grote, M.; Dolecek, C.; van Ree, R.; Valenta, R.

1994-01-01

We used the vapor phase of acrolein as an anhydrous fixative for timothy grass pollen in an immunogold double-labeling localization study of two different major allergens, Phl p I and Phl p V. More than 48 hr of fixation were needed for the subcellular pollen structures to be satisfactorily

Huntington's disease: a clinical review

Directory of Open Access Journals (Sweden)

Roos Raymund AC

2010-12-01

Full Text Available Abstract Huntington disease (HD is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Prevalence in the Caucasian population is estimated at 1/10,000-1/20,000. Mean age at onset of symptoms is 30-50 years. In some cases symptoms start before the age of 20 years with behavior disturbances and learning difficulties at school (Juvenile Huntington's disease; JHD. The classic sign is chorea that gradually spreads to all muscles. All psychomotor processes become severely retarded. Patients experience psychiatric symptoms and cognitive decline. HD is an autosomal dominant inherited disease caused by an elongated CAG repeat (36 repeats or more on the short arm of chromosome 4p16.3 in the Huntingtine gene. The longer the CAG repeat, the earlier the onset of disease. In cases of JHD the repeat often exceeds 55. Diagnosis is based on clinical symptoms and signs in an individual with a parent with proven HD, and is confirmed by DNA determination. Pre-manifest diagnosis should only be performed by multidisciplinary teams in healthy at-risk adult individuals who want to know whether they carry the mutation or not. Differential diagnoses include other causes of chorea including general internal disorders or iatrogenic disorders. Phenocopies (clinically diagnosed cases of HD without the genetic mutation are observed. Prenatal diagnosis is possible by chorionic villus sampling or amniocentesis. Preimplantation diagnosis with in vitro fertilization is offered in several countries. There is no cure. Management should be multidisciplinary and is based on treating symptoms with a view to improving quality of life. Chorea is treated with dopamine receptor blocking or depleting agents. Medication and non-medical care for depression and aggressive behavior may be required. The progression of the disease leads to a complete dependency in daily life, which

A Paradigmatic Disagreement in "Dialogue on Dialogic Pedagogy" by Eugene Matusov and Kiyotaka Miyazaki

Science.gov (United States)

Marjanovic-Shane, Ana

2014-01-01

I read with a great pleasure the heated dialogue on Dialogic Pedagogy between Eugene Matusov and Kiyotaka Miyazaki. It provided me with one of those rare occasions where I could both witness, and also join, the workings of two minds as they struggled with and against each other to construct, de-construct, and reconstruct their visions of dialogic…

Huntington disease: Experimental models and therapeutic perspectives

International Nuclear Information System (INIS)

Serrano Sanchez, Teresa; Blanco Lezcano, Lisette; Garcia Minet, Rocio; Alberti Amador, Esteban; Diaz Armesto, Ivan and others

2011-01-01

Huntington's disease (HD) is a degenerative dysfunction of hereditary origin. Up to date there is not, an effective treatment to the disease which having lapsed 15 or 20 years advances inexorably, in a slow form, toward the total inability or death. This paper reviews the clinical and morphological characteristics of Huntington's disease as well as the experimental models more commonly used to study this disease, having as source the articles indexed in Medline data base, published in the last 20 years. Advantages and disadvantages of all experimental models to reproduce the disease as well as the perspectives to therapeutic assay have been also considered. the consent of outline reported about the toxic models, those induced by neurotoxins such as quinolinic acid, appears to be the most appropriate to reproduce the neuropathologic characteristic of the disease, an genetic models contributing with more evidence to the knowledge of the disease etiology. Numerous treatments ameliorate clinical manifestations, but none of them has been able to stop or diminish the affectations derived from neuronal loss. At present time it is possible to reproduce, at least partially, the characteristics of the disease in experimentation animals that allow therapy evaluation in HD. from the treatment view point, the more promissory seems to be transplantation of no neuronal cells, taking into account ethical issues and factibility. On the other hand the new technology of interference RNA emerges as a potential therapeutic tool for treatment in HD, and to respond basic questions on the development of the disease.

The reception of Eugen Bleuler in British psychiatry, 1892-1954.

LENUS (Irish Health Repository)

Dalzell, Thomas

2012-02-01

This article draws on over 60 years of British medical journals and psychiatry textbooks to indicate the chronological stages of the reception of Eugen Bleuler in British psychiatry. Bleuler was already well known in Britain before his schizophrenia book appeared, with the journals containing numerous references, mainly positive, to his work. The psychiatry textbooks, however, were slower to integrate his contribution. This paper argues that this was not due to Bleuler\\'s placing Freud on a par with Kraepelin, but because of the early negative reaction to Kraepelin\\'s dementia praecox concept, despite Bleuler\\'s wider and less ominous conception of the illness.

Apolipoprotein E and presenilin-1 genotypes in Huntington's disease.

Science.gov (United States)

Panas, M; Avramopoulos, D; Karadima, G; Petersen, M B; Vassilopoulos, D

1999-07-01

Huntington's disease (HD) is an autosomal dominant degenerative disease of the central nervous system manifested by involuntary movements (chorea), psychiatric manifestations, and cognitive impairment with a variable age at onset. This variability is mainly attributed to genetic factors. The so-called aging genes [e.g., those for apolipoprotein E (APOE) and presenilin-1 (PS-1) have been implicated in determining the age at onset of Alzheimer's disease, a disease sharing common clinical features with HD. In 60 unrelated patients suffering from HD (mean age at onset 40.1 years, range 20-65) we determined number of CAG repeats and the distribution of the APOE alleles (epsilon2, epsilon3, epsilon4) and PS-1 alleles. The results showed that: (a) The age at onset was higher in the group of patients with the epsilon4 allele (51.6 vs. 38.0 P<0.002), (b) The correlation between the age at onset and the number of CAG repeats was strong in patients with the epsilon3/epsilon3 genotype while it was not detected in patients with epsilon3/epsilon4 genotype. (c) No correlation was found between age at onset and PS-1 alleles. In conclusion, APOE seems to be a significant factor influencing the age at onset of Huntington's disease.

Striatal dopamine D2 receptors, metabolism, and volume in preclinical Huntington disease

NARCIS (Netherlands)

van Oostrom, JCH; Maguire, RP; Verschuuren-Bemelmans, CC; van der Duin, LV; Pruim, J; Roos, RAC; Leenders, KL

2005-01-01

Among 27 preclinical carriers of the Huntington disease mutation (PMC), the authors found normal striatal values for MRI volumetry in 88% and for fluorodesoxyglucose PET metabolic index in 67%. Raclopride PET binding potential (RAC-BP) was decreased in 50% and correlated with increases in the

[Beyond eugenics: posthumanism as Homo patiens denials].

Science.gov (United States)

Ballesteros Llompart, Jesús

2012-01-01

Throughout history there have been attempts to overcome human limitations by means of technique. The novelty of the 20th century has been to try to extirpate all the faults, the suffering, the disease, and even the death. This power has been attributed successively to machines (the futurism), to the genetic information (the eugenism) and to the electronic information (the posthumanism). In all cases, it's unknown the distinction between inevitable faults, ontological deficiencies, as the reality of death, and avoidable ones, sociological deficiencies, as the deaths due to circumstances as lack of drinkable water, of medicaments, wars or any other type of violence. The due way of confronting the human faults is to try to eradicate their avoidable causes and at the same time to understand the sense of those that cannot be avoided, as occasion of the self-overcoming and the opening to the Transcendence.

From eugenics to lysenkoism: the evolution of Stanisław Skowron.

Science.gov (United States)

Dejong-Lambert, William

2009-01-01

This article describes the relationship between Polish geneticist Stanisław Skowron's views on eugenics during the interwar period, his experiences in Nazi concentration camps during World War II, and his response to Trofim D. Lysenko's ban on genetic research in Soviet-allied states after 1948. Skowron was educated at the Jagiellonian University in Krakow and received funding from the Rockefeller Foundation to study in the United States, Italy, Denmark, and Great Britain from 1924 to 1926. His exposure to research being conducted outside of Poland made him an important figure in Polish genetics. During this time Skowron also began to believe that an understanding of biological principles of heredity could play an important role in improving Polish society and became a supporter of eugenics. In 1939 he was arrested along with other faculty members at the Jagiellonian and sent to Sachsenhausen and Dachau. In 1947 he published the first book updating Polish biologists on recent developments in genetics; however, after learning of the outcome of the 1948 session of the Lenin All-Union Academy of Agricultural Sciences in Moscow, Skowron emerged as on of the most vocal advocates for Michurinism. I argue that Skowron's conversion to Lysenkoism was motivated by more than fear or opportunism, and is better understood as the product of his need to rationalize his own support for a theory he could not possibly have believed was correct.

Eugenics and Education: A Note on the Origins of the Intelligence Testing Movement in England.

Science.gov (United States)

Lowe, Roy

1980-01-01

Examines influence of Francis Galton and the Eugenics Education Society in the intelligence testing movement in England (early 1900s). For eugenicists, the central issue confronting society was the problem of racial deterioration. They responded with modification of the Binet-Simon tests and developed tests to examine the whole ability range.…

A hidden history: A survey of the teaching of eugenics in health, social care and pedagogical education and training courses in Europe.

Science.gov (United States)

Atherton, H L; Steels, S L

2016-12-01

Knowledge and understanding of how eugenics has historically affected the lives of people with intellectual disabilities is vital if professionals are to mount an effective defence against its contemporary influences. An online survey of European providers of health, social care and pedagogical education and training courses was undertaken to find out how the history of eugenics is taught to those wishing to work in services for people with intellectual disabilities. Two hundred and six educational providers were contacted with a response rate of 35.9% (n = 74). Findings showed that the majority of educational providers recognize the importance of including the history of eugenics in their courses, although fewer feel confident that it is sufficiently well covered to prepare future professionals for their role as protector. Course content differs on both the emphasis given to the different components of this history, time dedicated to its delivery and the extent to which it is used to inform legal and ethical debate. Specific recommendations for developing the way in which this subject area is taught are outlined. © The Author(s) 2015.

Eugenics, sterilization, and historical memory in the United States

Directory of Open Access Journals (Sweden)

Alexandra Minna Stern

Full Text Available Abstract From the 1920s to the 1950s, California sterilized approximately 20,000 people in state homes and hospitals based on a eugenic law that authorized medical superintendents to perform reproductive surgeries on patients deemed unfit and “suffering from a mental affliction likely to be inherited.” Working with a unique resource – a dataset created from 19,000 sterilization recommendations – my team and I have reconstructed patterns and experiences of institutionalization of sterilizations. This article presents several of our important initial findings related to ethnic and gender bias in sterilization policies, and reflects on the relevance of the history for contemporary issues in genomics and social justice.

Short G-rich oligonucleotides as a potential therapeutic for Huntington's Disease

Directory of Open Access Journals (Sweden)

Parekh-Olmedo Hetal

2006-10-01

Full Text Available Abstract Background Huntington's Disease (HD is an inherited autosomal dominant genetic disorder in which neuronal tissue degenerates. The pathogenesis of the disease appears to center on the development of protein aggregates that arise initially from the misfolding of the mutant HD protein. Mutant huntingtin (Htt is produced by HD genes that contain an increased number of glutamine codons within the first exon and this expansion leads to the production of a protein that misfolds. Recent studies suggest that mutant Htt can nucleate protein aggregation and interfere with a multitude of normal cellular functions. Results As such, efforts to find a therapy for HD have focused on agents that disrupt or block the mutant Htt aggregation pathway. Here, we report that short guanosine monotonic oligonucleotides capable of adopting a G-quartet structure, are effective inhibitors of aggregation. By utilizing a biochemical/immunoblotting assay as an initial screen, we identified a 20-mer, all G-oligonucleotide (HDG as an active molecule. Subsequent testing in a cell-based assay revealed that HDG was an effective inhibitor of aggregation of a fusion protein, comprised of a mutant Htt fragment and green fluorescent protein (eGFP. Taken together, our results suggest that a monotonic G-oligonucleotide, capable of adopting a G-quartet conformation is an effective inhibitor of aggregation. This oligonucleotide can also enable cell survival in PC12 cells overexpressing a mutant Htt fragment fusion gene. Conclusion Single-stranded DNA oligonucleotides capable of forming stable G-quartets can inhibit aggregation of the mutant Htt fragment protein. This activity maybe an important part of the pathogenecity of Huntington's Disease. Our results reveal a new class of agents that could be developed as a therapeutic approach for Huntington's Disease.

Continuous deep sedation, physician-assisted suicide, and euthanasia in Huntington's disorder.

Science.gov (United States)

Lindblad, Anna; Juth, Niklas; Fürst, Carl Johan; Lynöe, Niels

2010-11-01

To investigate the attitudes among Swedish physicians and the general public towards continuous deep sedation (CDS) as an alternative treatment for a competent, not imminently dying patient with Huntington's disorder requesting physician-assisted suicide (PAS) and euthanasia. A questionnaire was distributed to 1200 physicians in Sweden and 1201 individuals in Stockholm. It consisted of three parts: 1) A vignette about a competent patient with Huntington's disease requesting PAS. When no longer competent, relatives request euthanasia on behalf of the patient. Responders were asked about their attitudes towards these requests and whether CDS would be an acceptable alternative. 2) General questions about PAS and euthanasia. 3) Background variables. The response rate was 56% (physicians) and 52% (general public). The majority of the general public and a fairly large proportion of physicians reported more liberal views on CDS than are expressed in current Swedish and international recommendations. In light of the results, we suggest that there is a need for a broader discussion about the recommendations for CDS, with a special focus on the needs of patients with progressive neurodegenerative disorders.

Adenyl cyclase activator forskolin protects against Huntington's disease-like neurodegenerative disorders

Directory of Open Access Journals (Sweden)

Sidharth Mehan

2017-01-01

Full Text Available Long term suppression of succinate dehydrogenase by selective inhibitor 3-nitropropionic acid has been used in rodents to model Huntington's disease where mitochondrial dysfunction and oxidative damages are primary pathological hallmarks for neuronal damage. Improvements in learning and memory abilities, recovery of energy levels, and reduction of excitotoxicity damage can be achieved through activation of Adenyl cyclase enzyme by a specific phytochemical forskolin. In this study, intraperitoneal administration of 10 mg/kg 3-nitropropionic acid for 15 days in rats notably reduced body weight, worsened motor cocordination (grip strength, beam crossing task, locomotor activity, resulted in learning and memory deficits, greatly increased acetylcholinesterase, lactate dehydrogenase, nitrite, and malondialdehyde levels, obviously decreased adenosine triphosphate, succinate dehydrogenase, superoxide dismutase, catalase, and reduced glutathione levels in the striatum, cortex and hippocampus. Intragastric administration of forskolin at 10, 20, 30 mg/kg dose-dependently reversed these behavioral, biochemical and pathological changes caused by 3-nitropropionic acid. These results suggest that forskolin exhibits neuroprotective effects on 3-nitropropionic acid-induced Huntington's disease-like neurodegeneration.

Double strand DNA breaks response in Huntington´s disease

Czech Academy of Sciences Publication Activity Database

Šolc, Petr; Valášek, Jan; Rausová, Petra; Juhásová, Jana; Juhás, Štefan; Motlík, Jan

2015-01-01

Roč. 78, Suppl 2 (2015), s. 15-15 ISSN 1210-7859. [Conference on Animal Models for neurodegenerative Diseases /3./. 08.11.2015-10.11.2015, Liblice] R&D Projects: GA MŠk ED2.1.00/03.0124; GA MŠk(CZ) 7F14308 Institutional support: RVO:67985904 Keywords : Huntington ´s disease * DNA damage * double strand DNA breaks Subject RIV: FH - Neurology

The BACHD Rat Model of Huntington Disease Shows Signs of Fronto-Striatal Dysfunction in Two Operant Conditioning Tests of Short-Term Memory.

Directory of Open Access Journals (Sweden)

Erik Karl Håkan Clemensson

Full Text Available The BACHD rat is a recently developed transgenic animal model of Huntington disease, a progressive neurodegenerative disorder characterized by extensive loss of striatal neurons. Cognitive impairments are common among patients, and characterization of similar deficits in animal models of the disease is therefore of interest. The present study assessed the BACHD rats' performance in the delayed alternation and the delayed non-matching to position test, two Skinner box-based tests of short-term memory function. The transgenic rats showed impaired performance in both tests, indicating general problems with handling basic aspects of the tests, while short-term memory appeared to be intact. Similar phenotypes have been found in rats with fronto-striatal lesions, suggesting that Huntington disease-related neuropathology might be present in the BACHD rats. Further analyses indicated that the performance deficit in the delayed alternation test might be due to impaired inhibitory control, which has also been implicated in Huntington disease patients. The study ultimately suggests that the BACHD rats might suffer from neuropathology and cognitive impairments reminiscent of those of Huntington disease patients.

The BACHD Rat Model of Huntington Disease Shows Signs of Fronto-Striatal Dysfunction in Two Operant Conditioning Tests of Short-Term Memory.

Science.gov (United States)

Clemensson, Erik Karl Håkan; Clemensson, Laura Emily; Riess, Olaf; Nguyen, Huu Phuc

2017-01-01

The BACHD rat is a recently developed transgenic animal model of Huntington disease, a progressive neurodegenerative disorder characterized by extensive loss of striatal neurons. Cognitive impairments are common among patients, and characterization of similar deficits in animal models of the disease is therefore of interest. The present study assessed the BACHD rats' performance in the delayed alternation and the delayed non-matching to position test, two Skinner box-based tests of short-term memory function. The transgenic rats showed impaired performance in both tests, indicating general problems with handling basic aspects of the tests, while short-term memory appeared to be intact. Similar phenotypes have been found in rats with fronto-striatal lesions, suggesting that Huntington disease-related neuropathology might be present in the BACHD rats. Further analyses indicated that the performance deficit in the delayed alternation test might be due to impaired inhibitory control, which has also been implicated in Huntington disease patients. The study ultimately suggests that the BACHD rats might suffer from neuropathology and cognitive impairments reminiscent of those of Huntington disease patients.

[Eugenics and Discrimination in Colombia: the Role of Medicine and Psychiatry in Immigration Policy at the Beginning of the 20th Century].

Science.gov (United States)

Moog, Jaime Carrizosa

2014-03-01

With the Theory of Evolution, eugenics had its beginnings during the last decades of the 19th century. Academics discussed the results obtained from their observations, and progressively had influence on the promulgation of laws and norms related to ethnic hygiene and improvement of race. Such principles were the fundamentals to order eugenic and discriminatory laws. Colombia was not outside that discussion and developed immigration laws congruent to that thinking during the first half of the 20th century. Copyright © 2014 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

Current status of PET imaging in Huntington's disease

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Pagano, Gennaro; Niccolini, Flavia; Politis, Marios [King' s College London, Neurodegeneration Imaging Group, Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience (IoPPN), Camberwell, London (United Kingdom)

2016-06-15

To review the developments of recent decades and the current status of PET molecular imaging in Huntington's disease (HD). A systematic review of PET studies in HD was performed. The MEDLINE, Web of Science, Cochrane and Scopus databases were searched for articles in all languages published up to 19 August 2015 using the major medical subject heading ''Huntington Disease'' combined with text and key words ''Huntington Disease'', ''Neuroimaging'' and ''PET''. Only peer-reviewed, primary research studies in HD patients and premanifest HD carriers, and studies in which clinical features were described in association with PET neuroimaging results, were included in this review. Reviews, case reports and nonhuman studies were excluded. A total of 54 PET studies were identified and analysed in this review. Brain metabolism ([{sup 18}F]FDG and [{sup 15}O]H{sub 2}O), presynaptic ([{sup 18}F]fluorodopa, [{sup 11}C]β-CIT and [{sup 11}C]DTBZ) and postsynaptic ([{sup 11}C]SCH22390, [{sup 11}C]FLB457 and [{sup 11}C]raclopride) dopaminergic function, phosphodiesterases ([{sup 18}F]JNJ42259152, [{sup 18}F]MNI-659 and [{sup 11}C]IMA107), and adenosine ([{sup 18}F]CPFPX), cannabinoid ([{sup 18}F]MK-9470), opioid ([{sup 11}C]diprenorphine) and GABA ([{sup 11}C]flumazenil) receptors were evaluated as potential biomarkers for monitoring disease progression and for assessing the development and efficacy of novel disease-modifying drugs in premanifest HD carriers and HD patients. PET studies evaluating brain restoration and neuroprotection were also identified and described in detail. Brain metabolism, postsynaptic dopaminergic function and phosphodiesterase 10A levels were proven to be powerful in assessing disease progression. However, no single technique may be currently considered an optimal biomarker and an integrative multimodal imaging approach combining different techniques should be developed

Group 5 allergens of timothy grass (Phl p 5) bear cross-reacting T cell epitopes with group 1 allergens of rye grass (Lol p 1).

Science.gov (United States)

Müller, W D; Karamfilov, T; Bufe, A; Fahlbush, B; Wolf, I; Jäger, L

1996-04-01

Selected human T cell clones reactive with group 5 allergens of timothy grass (Phl p 5) were cross-stimulated in specific proliferation assays with group 1 allergens of rye grass (Lol p 1). Such interspecies cross-reactivities result obviously from structural motifs presented on defined Phl p 5 fragments as shown with recombinant Phl p 5 products.

Proceedings of the National Silviculture Workshop: Economics Of Silvicultural Investments; Eugene, OR; May 16-20, 1983

Science.gov (United States)

Clark Row; Charles Palmer; Robert M. Randall; Tom Ortman; James P. Merzenich; Gary Manning; George Howe; Jim McDivitt; Chris Hansen; Willard R. Fey; Vernon L. Robinson; K. E. Sleavin; K. N. Johnson; Roger D. Fight; L. O. (Pete) Stanger; Lee Medema; Christopher D. Risbrudt; Richard W. Guldin; Richard Greenhalgh; Mike Skinner; John Fiske; Thomas J. Mills; John H. Beuter

1983-01-01

The 1983 Silviculture Workshop was held in Eugene, Oregon, and the Willamette National Forest. The purpose of the workshop was to review and discuss the requirements by laws, regulations, and Forest Service policy of the need for and uses of economic analyses in silvicultural program planning and development.

Racial Metabolism: Eugenic Studies in Jamaica and Yucatán, between 1920 and 1940

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Joel Vargas Domínguez

2015-10-01

Full Text Available Objective: this paper shows the configuration of research conducted by the Carnegie Institution of Washington (CIW, in Jamaica and Yucatan, about basal metabolism on the onset of the twen­tieth century. I argue that this physiological research, conducted outside the usual laboratory spaces, used and articulated eugenics and racialized notions about the bodies under examination.Content: from the standpoint of the history of science I have analyzed the publications, reports and correspondence of the members of the Carnegie Institution expeditions. Conclusions: I show that basal metabolism was a measure constructed and used in the first half of the twentieth cen­tury with a strong eugenic and racial bias. Francis G. Benedict, Charles B. Davenport and Morris Steggerda from the CIW conducted these expeditions not only from the medical but also from the anthropological standpoint, in order to answer the question whether there was a climatic or racial effect on the body of the subjects analyzed. The results of the research were incorporated to the formulas used to evaluate the nutritional status of populations, fact that might have con­sequences nowadays on the way we understand metabolic “normality”.

Transgenic miniature pig as a model for the study of Huntington´s Disease

Czech Academy of Sciences Publication Activity Database

Baxa, Monika

2012-01-01

Roč. 22, č. 2 (2012), s. 23-25 ISSN 1210-1737 Institutional support: RVO:67985904 Keywords : transgenic pig * Huntington ´s disease * large animal model * neurodegenerative disease Subject RIV: EB - Genetics ; Molecular Biology

4p16.3 haplotype modifying age at onset of Huntington disease

DEFF Research Database (Denmark)

Nørremølle, A; Budtz-Jørgensen, E; Fenger, K

2009-01-01

Huntington disease (HD) is caused by an expanded CAG repeat sequence in the HD gene. Although the age at onset is correlated to the CAG repeat length, this correlation only explains approximately half of the variation in onset age. Less variation between siblings indicates that the variation is, ...

Reflections on Mental Retardation and Eugenics, Old and New: Mensa and the Human Genome Project.

Science.gov (United States)

Smith, J. David

1994-01-01

This article addresses the moral and ethical issues of mental retardation and a continuing legacy of belief in eugenics. It discusses the involuntary sterilization of Carrie Buck in 1927, support for legalized killing of subnormal infants by 47% of respondents to a Mensa survey, and implications of the Human Genome Project for the field of mental…

The Liberal Eugenics: A Look from the Composition the Future of Human Nature by Jürgen Habermas

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Riva Sobrado De Freitas

2015-12-01

Full Text Available This article intends to analyze the liberal eugenics from the understanding of Jürgen Habermas in the composition The Future of Human Nature, mainly with respect to the possibilities that the subject exposed to genetic manipulation procedures may have hurt its right to self-understanding and, consequently, its personal dignity. The purpose consists in investigating the idea introduced by the author about the liberal eugenics and its possible consequences in relation to the rights of the subject exposed to that practice. Therefore, it was done an exploratory and explanatory bibliographical research, qualitative, using the hypothetical-deductive method. The results achieved with the research are related to the study of the theme through a philosophical perspective, also verifying, that, in the authors point of view, the deliberate use of genetic manipulation techniques is dangerous, by the possibility of hurting the subjects rights, who is the object of this manipulation. The conclusion is that, surely, despite the several contributions brought to the humanity by the genetic engineering, there are issues to be thought and, in the specific issue of the liberal eugenics, the subjects right of self-understanding could, somehow, have been broken in case of intervention in its genetic material, mainly in relation to the selection of the desired characteristics. The contribution achieved with this study is guided in clearing an important theme, and while so polemic, and precisely for this reason needs to be analyzed, by the philosophys point of view, mainly by Jürgen Habermas knowledge.

Juvenile Huntington's disease confirmed by genetic examination in twins Doença de Huntington juvenil confirmada por exame genético em gêmeas

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GILBERTO LEVY

1999-09-01

Full Text Available Early-onset Huntington's disease (HD occurs in approximately 10% of HD's cases. We report juvenile HD in phenotypically identical twins, evaluated by history, clinical and neurologic examination, mini-mental state examination, blood laboratory exams, cerebrospinal fluid examination, skull computed tomography, and genetic examination for HD. Patients had the akinetic-rigid variety (Westphal variant of the disease and paternal inheritance. The laboratory workup confirmed the clinical diagnosis of HD, which adds this report to the rare cases of HD in twins reported in the literature.Doença de Huntington (DH de início precoce ocorre em aproximadamente 10% dos casos de DH. Relatamos DH juvenil em gêmeas fenotipicamente idênticas, avaliadas por história, exames clínico e neurológico, mini-exame do estado mental, exames de sangue, exame do líquido cefalorraquidiano, tomografia computadorizada de crânio e exame genético para DH. As pacientes apresentavam a variedade rígido-acinética (variante de Westphal da doença e herança paterna. A avaliação laboratorial confirmou o diagnóstico clínico de DH, acrescentando-se este relato aos raros casos de DH em gêmeos relatados na literatura.

Odvrácená tvář otce egyptské archeologie William Matthew Flinders Petrie a eugenická věda // The Dark Side of the Father of Egyptian Archaeology William Matthew Flinders Petrie and Eugenic Science

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Kamila Tomášková

2016-06-01

Full Text Available The text aims to bring attention of the Czech readers to Petrie's contributions to the eugenics movement in Great Britain. It describes his close association with Francis Galton and his resulting pronounced views on eugenics and shows how Petrie's racist opinions and involvement in eugenics influenced hi s work as an archaeologist and historian. An attempt is made to understand Petrie's views in the context ofhis times instead of condemning him for hi s appalling conclusions motivated by his racism and eugenics beliefs. The text offers a perspective which enables the readers to consider Petrie's thoughts in relation to the eugenic movement which was not on ly favoured by many ofhis contemporaries, but also had many supporters Jong after Petrie's death. Any consideration of the influence of past ideologies and context on Petrie's thinking and research also brings forward an unanswerable question ofhow much each one of u s is influenced by the ideologies and the context(s prevalent in present times and culture.

Striatal grafts in a rat model of Huntington's disease

DEFF Research Database (Denmark)

Guzman, R; Meyer, M; Lövblad, K O

1999-01-01

Survival and integration into the host brain of grafted tissue are crucial factors in neurotransplantation approaches. The present study explored the feasibility of using a clinical MR scanner to study striatal graft development in a rat model of Huntington's disease. Rat fetal lateral ganglionic...... time-points graft location could not be further verified. Measures for graft size and ventricle size obtained from MR images highly correlated with measures obtained from histologically processed sections (R = 0.8, P fetal rat lateral ganglionic...

Professionalization and the Null Curriculum: The Case of the Popular Eugenics Movement and American Educational Studies.

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Selden, Steven

1987-01-01

Presents an essay review of three recent books on eugenics, a once popular quasiscientific and politically conservative social movement devoted to the improvement of humankind through programs of selective breeding and marriage restriction. States that educators must study and come to grips with the meaning of this movement in order to appreciate…

75 FR 34049 - FM Table of Allotments (The Dalles, Tualatin, Eugene, Albany, Lebanon, Paisley, and Diamond Lake...

Science.gov (United States)

2010-06-16

... FEDERAL COMMUNICATIONS COMMISSION 47 CFR Part 73 [DA 10-786; MB Docket No. 05-10; RM-11279] FM Table of Allotments (The Dalles, Tualatin, Eugene, Albany, Lebanon, Paisley, and Diamond Lake, Oregon... 279C, Lebanon, Oregon, Bicoastal Media Licenses IV, LLC (``Bicoastal''), licensee of Station KACI-FM...

Hellenism, Hebraism, and the Eugenics of Culture in E.M. Forster's Howards End

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Jacobowitz, Seth

2004-01-01

Seth Jacobowitz, in his paper "Hellenism, Hebraism, and the Eugenics of Culture in E.M. Forster's Howards End," explores how the culturalist principles of Hellenism and Hebraism theorized by Matthew Arnold as the basis of Englishness in Culture and Anarchy (1869) were incorporated into the text of E.M. Forster's Howards End (1910) to show the close institutional and conceptual linkages Forster shared with Arnold. Further, Jacobowitz seeks to bring Howards End into dialog with Forster's only m...

Radiation sensitivity of fibroblast strains from patients with Usher's syndrome, Duchenne muscular dystrophy, and Huntington's disease

International Nuclear Information System (INIS)

Nove, J.; Little, J.B.; Tarone, R.E.; Robbins, J.H.

1987-01-01

The colony-forming ability of 10 normal human fibroblast cell strains and of 10 strains representing 3 degenerative diseases of either nerve or muscle cells was determined after exposure of the cells to X-rays or β-particles from tritiated water. Both methods of irradiation yielded similar comparative results. The fibroblast strains from the 5 Usher's syndrome patients and from 1 of the 2 Huntington's disease patients were hypersensitive to radiation, while those from the 3 Duchenne muscular dystrophy patients and the second Huntington's disease patient had normal sensitivity to radiation. These results indicate both disease-specific and strain-specific differences in the survival of fibroblasts after exposure to ionizing radiation. 38 refs.; 2 figs.; 3 tabs

Responsiveness to timothy grass pollen in individuals without known natural exposure in an allergen challenge chamber.

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Ramirez, Daniel A; Andrews, Charles P; Rather, Cynthia G; Jacobs, Robert L

2015-03-01

The responsiveness to a nonendemic grass species is unknown and cannot be research without an allergen challenge chamber. To determine the clinical responsiveness to timothy grass pollen (TGP) in participants without known natural exposure in an allergen challenge chamber (ACC). Of the 26 screened participants, 22 met screening criteria and completed the 2 chamber exposures. The study consisted of an initial screening visit that included a blood draw for serum specific IgE (ssIGE) to Bermuda grass pollen and TGP followed by a 4½-day run-in phase and two 3-hour ACC exposure visits. This study was performed early in the first week of December 2013, when no seasonal pollens were detected in San Antonio, Texas. Symptom scores were recorded at baseline and every 30 minutes. Of the 26 screened participants, 22 met the screening criteria and completed the 2 chamber exposures. Thirteen participants had always lived in South Texas without natural exposure, and 9 had previously lived in areas with TGP exposure. All participants tested positive to TGP and Bermuda grass pollen. Twelve and 13 of 22 had positive ssIgE test results to Timothy and Bermuda allergens, respectively, with 11 having positive results for both allergens. There were strong correlations among skin prick test size, a positive ssIgE test result, and high symptoms from TGP exposure. There was little difference in symptoms between those who had lived their entire lives in South Texas and those who had lived elsewhere. In Texas, where exposure to TGP is minimal, strongly positive SPT and ssIgE test results were predictors of high symptoms to TGP exposure. Never exposed participants in South Texas reacted to TGP similar to those who had previous natural exposure, suggesting that in vivo cross-reactivity may be higher than predicted by prior in vitro data and may allow the use in clinical trials of allergens not endemic to the locale of an ACC. Copyright © 2015 American College of Allergy, Asthma & Immunology

A gift of prophecy essays in celebration of the life of Robert Eugene Marshak

CERN Document Server

1994-01-01

Robert Eugene Marshak (1916-92) devoted much of his life to helping other people carry out scientific research and gather to discuss their work. In addition to his scientific statesmanship, he was an extraordinarily gifted research scientist, and many of his scientific contributions have been prophetic. This book pays homage to his creativity and continuing work, with contributions from many of the people whose lives have been influenced by him.

A new mutation for Huntington disease following maternal transmission of an intermediate allele

NARCIS (Netherlands)

Semaka, Alicia; Kay, Chris; Belfroid, René D. M.; Bijlsma, Emilia K.; Losekoot, Monique; van Langen, Irene M.; van Maarle, Merel C.; Oosterloo, Mayke; Hayden, Michael R.; van Belzen, Martine J.

2015-01-01

New mutations for Huntington disease (HD) originate from CAG repeat expansion of intermediate alleles (27-35 CAG). Expansions of such alleles into the pathological range (≥ 36 CAG) have been exclusively observed in paternal transmission. We report the occurrence of a new mutation that defies the

Digital bedrock geologic map of parts of the Huntington, Richmond, Bolton and Waterbury quadrangles, Vermont

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Vermont Center for Geographic Information — Digital Data from VG95-9A Thompson, PJ�and Thompson, TB, 1995, Digital bedrock geologic map of parts of the Huntington, Richmond, Bolton and Waterbury quadrangles,...

Quality babies. China's "eugenics" guidelines are as old as civilization.

Science.gov (United States)

1994-01-12

Inaccurate translations inadvertently misrepresent policy directives from China. Professional moralizers respond to the new laws with indignation. For example, an editorial in a US newspaper said that Americans objected to China's eugenic guidelines to prevent inferior quality infants. Yet, in the US and other developed countries, parents, and adult siblings do no allow their mentally retarded family members to procreate. Quiet abortions occur. In the US, deformed newborns are classified as stillborns. In the 1950s in the US, state governments allowed sterilization of handicapped people and even alcoholics. The moralizers expect China to accomplish in 10 years what developed countries did in 100 years. China has a one-child policy to which many so-called human rights advocates object. Yet, China cannot sustain a population of 2 billion with the living standards to which it aspires. Granted, however, that China does create its own image problems. It needs to invest more in public relations, maybe employ image-building professionals from the US and Europe to circumvent the unintentional use of emotionally charged, historically loaded, or inappropriate terms and, therefore, to prevent the international media from overreacting. Nevertheless, moral dilemmas do exist with eugenics policies. Genetic markers can detect chromosomal abnormalities leading to mental retardation as well as later-life abnormalities; e.g., colon cancer. Markers may perhaps someday detect a propensity to criminal behavior, homosexuality, or alcoholism. Governments could forbid all genetic testing, resulting in families accepting whatever nature sends, but with the advancement of science, this is unrealistic. If it is banned in one country, people will go to a country where it is available. Since parents in both the US and China want healthy, good-looking and intelligent children US editorialists should not moralize about China while US couples have access to the most up-to-date genetic technology.

Eugene P. Wigner's Visionary Contributions to Generations-I through IV Fission Reactors

Science.gov (United States)

Carré, Frank

2014-09-01

Among Europe's greatest scientists who fled to Britain and America in the 1930s, Eugene P. Wigner made instrumental advances in reactor physics, reactor design and technology, and spent nuclear fuel processing for both purposes of developing atomic weapons during world-war II and nuclear power afterwards. Wigner who had training in chemical engineering and self-education in physics first gained recognition for his remarkable articles and books on applications of Group theory to Quantum mechanics, Solid state physics and other topics that opened new branches of Physics.

Magnetic biomineralisation in Huntington's disease transgenic mice

International Nuclear Information System (INIS)

Beyhum, W; Hautot, D; Dobson, J; Pankhurst, Q A

2005-01-01

The concentration levels of biogenic magnetite nanoparticles in transgenic R6/2 Huntington's disease (HD) mice have been investigated, using seven control and seven HD mice each from an 8 week-old litter and from a 12 week-old litter. Hysteresis and isothermal remnant magnetisation data were collected on a SQUID magnetometer, and analysed using a model comprising dia/paramagnetic, ferrimagnetic and superparamagnetic contributions, to extract the magnetite and ferritin concentrations present. It was found that magnetite was present in both superparamagnetic and blocked states. A larger spread and higher concentration of magnetite levels was found in the diseased mice for both the 8 week-old and 12 week-old batches, compared to the controls

Sequential Treatment Initiation with Timothy Grass and Ragweed Sublingual Immunotherapy Tablets Followed by Simultaneous Treatment Is Well Tolerated.

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Maloney, Jennifer; Berman, Gary; Gagnon, Remi; Bernstein, David I; Nelson, Harold S; Kleine-Tebbe, Jörg; Kaur, Amarjot; Li, Qing; Nolte, Hendrik

2016-01-01

Dual treatment with grass and ragweed sublingual immunotherapy (SLIT) tablets has not been studied. To characterize the safety and tolerability of dual grass and ragweed SLIT-tablet administration. This open-label, multicenter trial (NCT02256553) enrolled North American adults (N = 102) allergic to grass and ragweed. The trial had 3 periods, each of 2 weeks duration. In period 1, subjects received once-daily timothy grass SLIT tablet (2800 bioequivalent allergen unit; Merck, Inc, Kenilworth, NJ/ALK, Hørsholm, Denmark). In period 2, subjects received a short ragweed SLIT tablet (12 Ambrosia artemisiifolia 1-U; Merck/ALK) every morning and a grass SLIT tablet every evening. In period 3, subjects received once-daily grass and ragweed SLIT tablets within 5 minutes (simultaneous intake). The primary end point was the proportion of subjects with 1 or more local swelling events in each period. Secondary end points were the proportion of subjects with 1 or more local adverse events (AEs), that discontinued the treatment because of AEs, and subjects with 1 or more local AEs requiring treatment. No severe swellings, systemic allergic reactions, asthma attacks, or reactions requiring epinephrine were reported. Most (99%) AEs were graded mild to moderate. The proportions of subjects with 1 or more local swelling events were 14%, 22%, and 15% for periods 1, 2, and 3, respectively. For periods 1, 2, and 3, the proportions of subjects with 1 or more local AEs were 71%, 69%, and 56%, respectively; the proportions discontinuing the treatment because of treatment-related AEs were 5%, 1%, and 2%, and the proportions with 1 or more local AEs requiring treatment were 4%, 4%, and 1%. In this trial, a 4-week sequential SLIT-tablet dosing schedule followed by simultaneous intake of timothy grass and ragweed tablets was well tolerated. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

The bacterial population adherent to plant particles in the rumen of reindeer fed lichen, timothy hay or silage

Directory of Open Access Journals (Sweden)

Monica Alterskjær Olsen

1998-02-01

Full Text Available Male reindeer (Rangifer tarandus tarandus calves taken from a natural winter pasture were given ad lib. access to lichen (n = 3, timothy silage (n = 3 and hay (n = 3 for 7 weeks. Median numbers of viable anaerobic bacteria adherent to the plant particles (cells/g wet weight of rumen solids, growing on a habitat simulating medium (M8V, were significantly higher (P = 0.05 in the rumen of reindeer fed lichen (26.5 x 109- 53.0 x 109 and hay (4.0 x 109- 40.5 x 109, compared to reindeer fed silage (1.15 x 109 - 3.25 x 109. Anaerobic bacterial strains (n = 551 from the plant particles obtained from the rumen of the nine reindeer examined, were isolated using an acid swollen cellulose medium (M8SC and tested for their ability to hydrolyse carboxymethyl cellulose (CMC. The proportion of CMC hydrolysing adherent bacteria isolated from M8SC was significantly higher in reindeer fed hay (21.5% compared ro animals fed lichen (5.3% and silage (2.7% (P = 0.05. The CMC hydrolysing bacterial srrains (n=42 isolated from reindeer fed hay where characterised as non-cellulolytic Butyrivibrio fibrisolvens (9.5%, cellulolytic B. fibrisolvens (50.0%, Clostridium sp. (2.4% and unknowns (38.1%, while CMC hydrolysing strains (n=11 isolated from animals fed lichen and strains (n=4 isolated from animals fed silage where all characterised as B. fibrisolvens. None of the bacterial strains isolated from the rumen solids of reindeer fed lichen or silage were found to be cellulolytic. This study suggests that both lichen and timothy silage have a negative influence, compared to hay, on the numbers of cellulolytic bacteria adherent to the plant particles in the rumen of reindeer.

Evidence for Deficits on Different Components of Theory of Mind in Huntington's Disease

NARCIS (Netherlands)

Allain, P.; Havel-Thomassin, V.; Verny, C.; Gohier, B.; Lancelot, C.; Besnard, J.; Fasotti, L.; Le Gall, D.

2011-01-01

Objective: The main aim of this study was to investigate the effects of Huntington's disease (HD) on cognitive and affective Theory of Mind (ToM) abilities. The relation of ToM performance and executive functions was also examined. Method: Eighteen HD patients, early in the course of the disease,

Preserving Precious Instruments in Mathematics History: The Educational Museum of Teachers College and David Eugene Smith's Collection

Science.gov (United States)

Murray, Diane R.

2011-01-01

A history is given of the Educational Museum of Teachers College, which began in 1886, and David Eugene Smith's extensive collection of mathematical tools used in the Museum's exhibits is discussed. Historic mathematical instruments including, the astrolabe, abacus and counting rods, and the slide rule are examined. The author uses digitized…

Behavioral testing of minipigs transgenic for the Huntington gene-A three-year observational study

Czech Academy of Sciences Publication Activity Database

Schuldenzucker, V.; Schubert, R.; Muratori, L. M.; Freisfeld, F.; Rieke, L.; Matheis, T.; Schramke, S.; Motlík, Jan; Kemper, N.; Radespiel, U.; Reilmann, R.

2017-01-01

Roč. 12, č. 10 (2017), č. článku e0185970. E-ISSN 1932-6203 Institutional support: RVO:67985904 Keywords : Huntington´s disease * minipigs Subject RIV: EG - Zoology OBOR OECD: Behavioral sciences biology Impact factor: 2.806, year: 2016

Motor, emotional and cognitive deficits in adult BACHD mice : A model for Huntington's disease

NARCIS (Netherlands)

Abada, Yah-se K.; Schreiber, Rudy; Ellenbroek, Bart

2013-01-01

Rationale: Huntington's disease (HD) is characterized by progressive motor dysfunction, emotional disturbances and cognitive deficits. It is a genetic disease caused by an elongation of the polyglutamine repeats in the huntingtin gene. Whereas HD is a complex disorder, previous studies in mice

Reversal learning and associative memory impairments in a BACHD rat model for Huntington disease

NARCIS (Netherlands)

Abada, Yah-se K.; Nguyen, Huu Phuc; Ellenbroek, Bart; Schreiber, Rudy

2013-01-01

Chorea and psychiatric symptoms are hallmarks of Huntington disease (HD), a neurodegenerative disorder, genetically characterized by the presence of expanded CAG repeats (>35) in the HUNTINGTIN (HTT) gene. HD patients present psychiatric symptoms prior to the onset of motor symptoms and we recently

The adjustment of γ-aminobutyric acidA tonic subunits in Huntington's disease: from transcription to translation to synaptic levels into the neostriatum

Directory of Open Access Journals (Sweden)

Abraham Rosas-Arellano

2018-01-01

Full Text Available γ-Aminobutyric acid (GABA, plays a key role in all stages of life, also is considered the main inhibitory neurotransmitter. GABA activates two kind of membrane receptors known as GABAA and GABAB, the first one is responsible to render tonic inhibition by pentameric receptors containing α4−6, β3, δ, or ρ1−3 subunits, they are located at perisynaptic and/or in extrasynaptic regions. The biophysical properties of GABAA tonic inhibition have been related with cellular protection against excitotoxic injury and cell death in presence of excessive excitation. On this basis, GABAA tonic inhibition has been proposed as a potential target for therapeutic intervention of Huntington's disease. Huntington's disease is a neurodegenerative disorder caused by a genetic mutation of the huntingtin protein. For experimental studies of Huntington's disease mouse models have been developed, such as R6/1, R6/2, HdhQ92, HdhQ150, as well as YAC128. In all of them, some key experimental reports are focused on neostriatum. The neostriatum is considered as the most important connection between cerebral cortex and basal ganglia structures, its cytology display two pathways called direct and indirect constituted by medium sized spiny neurons expressing dopamine D1 and D2 receptors respectively, they display strong expression of many types of GABAA receptors, including tonic subunits. The studies about of GABAA tonic subunits and Huntington's disease into the neostriatum are rising in recent years, suggesting interesting changes in their expression and localization which can be used as a strategy to delay the cellular damage caused by the imbalance between excitation and inhibition, a hallmark of Huntington's disease.

Radical Enformel in the Oeuvre of Ivo Gattin and Eugen Feller

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Ješa Denegri

2016-01-01

Full Text Available The paper focuses on Ivo Gattin and Eugen Feller as prominent figures in the so-called “radical Enformel”, an artistic trend in Croatian painting during the late 1950s and early 1960s. Besides them, the representatives of radical Enformel include Vlado Kristl, Marijan Javšovar, and Đuro Seder, who likewise participated in the exhibition Informel 1956-1962 at Nova Gallery in 1977. The theoretical platform for this trend in painting was found in hypotheses presented in the influential text “Materia, tecnica e storia nell’informale” (1959 by the Italian artcritic Giulio Carlo Argan, which were adapted to the specific Croatian circumstances and examples.

On the concept of eugenics: preliminaries to a critical appraisal Sobre o conceito de eugenia: preliminares à uma avaliação crítica

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Demetrio Neri

1999-01-01

Full Text Available This paper's main issue is linked to what can be foreseen as the increasing capability of medical genetics to modify the genetic composition of the human species through direct interventions in the human genome for medical and non-medical purposes, i.e., the 'risk' of a resurgence of eugenics. In current discussions on the topic (briefly presented in the first section, the 'phantom of eugenics' is raised several times, but there is a great deal of confusion on what counts as eugenics, partly because of broad conceptual disagreement over the notion itself. Furthermore, according to some scholars there is no hope of overcoming this unsatisfactory conceptual uncertainty. Partly challenging this opinion, the second and third sections of this paper attempt to identify some basic features which could be seen as intrinsically linked to the notion of eugenics, with the aim of reducing the range of conceptual disagreement as a preliminary step in bringing into focus what exactly is wrong with practicing eugenics. The subsequent sections deal with the substantive issue of whether or not to practice eugenics from the point of view of the interest of future generations in the human species' genetic composition. The main moral arguments for and against eugenics are examined from the point of view of our obligations towards future generations, and the conclusion is in favor of a cautious 'open-door' position.O ponto principal desse artigo está vinculado ao que pode ser antevisto como a crescente capacidade da genética médica de modificar a espécie humana por meio de intervenções diretas no genoma humano com propósitos médicos e não médicos, isto é, o risco do ressurgimento da eugenia. Nas atuais discussões sobre o tópico, o fantasma da eugenia é levantado diversas vezes, mas há grande confusão no que se refere ao que é considerado como eugenia, particularmente em razão da ampla discordância sobre a noção em si. Procura-se identificar

Género, cuerpo, gimnasia y sexualidad en los manuales educacionales higienistas y eugenésicos en Chile, 1870-1938

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Manuel Durán Sandoval

2015-03-01

Full Text Available Este artículo aborda la conformación de un discurso eugenésico positivo heredero de las teorías higienistas ambientalistas y raciales de finales del siglo XIX. Esta tendencia se consolidó entre 1925 a 1938 con la conformación de una estructura institucional y programas de corte social con fuertes matices eugenésicos positivos, considerando el cuerpo y el “carácter” de la juventud como amalgama de la nación.En este contexto se desarrollaron desde fines del siglo XIX tentativas por constituir una medicina pública que propulsara un programa de educación y preservación de la juventud. Estas iniciativas de corte ambientalista pretendían potenciar las aptitudes física y morales de los jóvenes mediante planes de alimentación, higiene y gimnasia

[Predictors of mental and physical quality of life in Huntington's disease].

Science.gov (United States)

Brugger, F; Hepperger, C; Hametner, E-M; Holl, A K; Painold, A; Schusterschitz, C; Bonelli, R; Holas, C; Wenning, G K; Poewe, W; Seppi, K

2015-02-01

The assessment of health-related quality of life (hrQoL) is an important tool in therapy studies and in the treatment of patients with Huntington's disease (HD). In the absence of causal interventions, HD therapy targets the alleviation of symptoms aiming to improve impaired hrQoL. The aim of this study was to determine the impact of disease characteristics on hrQoL in HD. A total of 80 genetically confirmed HD patients underwent an assessment using the Unified Huntington's Disease Rating Scale, the Beck Depression Inventory, the Hamilton Rating Scale and the SF-36, a scale for the assessment of physical and mental QoL. Multiple regression analysis revealed that health-related physical and mental QoL was considerably influenced by the functional capacity. The mental QoL also correlated with the degree of depressive symptoms, age and the number of CAG repeats. However, there was no statistical relation between QoL and motor and cognitive abilities. This study underlines the relationship between function capacity and depressive symptoms with mental and physical QoL. This is the first time that hrQoL has been investigated in a German speaking cohort. The results are in accordance with previous studies of hrQoL in HD.

Sensory modulation intervention and behaviour support modification for the treatment of severe aggression in Huntington's disease. A single case experimental design.

Science.gov (United States)

Fisher, Caroline A; Brown, Anahita

2017-09-01

Aggression is common in Huntington's disease. However, at present there are no standard guidelines for managing aggression in Huntington's sufferers due to a lack of empirical research. This paper presents a case study of the treatment of very high levels of aggression with sensory modulation and behaviour support intervention in a Huntington's sufferer. The client exhibited a range of aggressive behaviours, including physical aggression to people, furniture and objects, and verbal aggression. Following an eight week baseline phase, five weeks of sensory modulation intervention were employed. A behaviour support plan was then implemented as an adjunct to the sensory intervention, with aggressive behaviour systematically audited for a further 11 weeks. The results indicate a significant reduction in reported levels of aggression during the combined sensory modulation and behaviour support phase, compared to both the baseline and the sensory modulation therapy alone phases. This case study highlights the efficacy non-pharmacological interventions may have for reducing aggression in HD.

The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients

DEFF Research Database (Denmark)

Metzger, Silke; Walter, Carolin; Riess, Olaf

2013-01-01

The cause of Huntington disease (HD) is a polyglutamine repeat expansion of more than 36 units in the huntingtin protein, which is inversely correlated with the age at onset of the disease. However, additional genetic factors are believed to modify the course and the age at onset of HD. Recently......, we identified the V471A polymorphism in the autophagy-related gene ATG7, a key component of the autophagy pathway that plays an important role in HD pathogenesis, to be associated with the age at onset in a large group of European Huntington disease patients. To confirm this association in a second...... independent patient cohort, we analysed the ATG7 V471A polymorphism in additional 1,464 European HD patients of the "REGISTRY" cohort from the European Huntington Disease Network (EHDN). In the entire REGISTRY cohort we could not confirm a modifying effect of the ATG7 V471A polymorphism. However, analysing...

Huntington's disease predictive testing: the case for an assessment approach to requests from adolescents.

Science.gov (United States)

Binedell, J; Soldan, J R; Scourfield, J; Harper, P S

1996-01-01

Adolescents who are actively requesting Huntington's predictive testing of their own accord pose a dilemma to those providing testing. In the absence of empirical evidence as regards the impact of genetic testing on minors, current policy and guidelines, based on the ethical principles of non-maleficence and respect for individual autonomy and confidentiality, generally exclude the testing of minors. It is argued that adherence to an age based exclusion criterion in Huntington's disease predictive testing protocols is out of step with trends in UK case law concerning minors' consent to medical treatment. Furthermore, contributions from developmental psychology and research into adolescents' decision making competence suggest that adolescents can make informed choices about their health and personal lives. Criteria for developing an assessment approach to such requests are put forward and the implications of a case by case evaluation of competence to consent in terms of clinicians' tolerance for uncertainty are discussed. PMID:8950670

77 FR 51064 - Huntington Foam LLC, Fort Smith, AR; Notice of Affirmative Determination Regarding Application...

Science.gov (United States)

2012-08-23

... DEPARTMENT OF LABOR Employment and Training Administration [TA-W-81,475] Huntington Foam LLC, Fort Smith, AR; Notice of Affirmative Determination Regarding Application for Reconsideration By application dated May 21, 2012, the State Workforce Office requested administrative reconsideration of the negative...

Polysomnographic Findings and Clinical Correlates in Huntington Disease: A Cross-Sectional Cohort Study

Science.gov (United States)

Piano, Carla; Losurdo, Anna; Della Marca, Giacomo; Solito, Marcella; Calandra-Buonaura, Giovanna; Provini, Federica; Bentivoglio, Anna Rita; Cortelli, Pietro

2015-01-01

Study Objectives: To evaluate the sleep pattern and the motor activity during sleep in a cohort of patients affected by Huntington disease (HD). Design: Cross-sectional cohort study. Setting: Sleep laboratory. Patients: Thirty HD patients, 16 women and 14 men (mean age 57.3 ± 12.2 y); 30 matched healthy controls (mean age 56.5 ± 11.8 y). Interventions: Subjective sleep evaluation: Epworth Sleepiness Scale (ESS); Berlin's Questionnaire, interview for restless legs syndrome (RLS), questionnaire for REM sleep behavior disorder (RBD). Clinical evaluation: disease duration, clinical severity (unified Huntington disease motor rating scale [UHDMRS]), genetic tests. Laboratory-based full-night attended video-polysomnography (V-PSG). Measurements and Results: The duration of the disease was 9.4 ± 4.4 y, UHMDRS score was 55.5 ± 23.4, CAG repeats were 44.3 ± 4.1. Body mass index was 21.9 ± 4.0 kg/m2. No patients or caregivers reported poor sleep quality. Two patients reported symptoms of RLS. Eight patients had an ESS score ≥ 9. Eight patients had high risk of obstructive sleep apnea. At the RBD questionnaire, two patients had a pathological score. HD patients, compared to controls, showed shorter sleep, reduced sleep efficiency index, and increased arousals and awakenings. Four patients presented with sleep disordered breathing (SDB). Periodic limb movements (PLMs) during wake and sleep were observed in all patients. No episode of RBD was observed in the V-PSG recordings, and no patients showed rapid eye movement (REM) sleep without atonia. The disease duration correlated with ESS score (P Marca G, Solito M, Calandra-Buonaura G, Provini F, Bentivoglio AR, Cortelli P. Polysomnographic findings and clinical correlates in Huntington disease: a cross-sectional cohort study. SLEEP 2015;38(9):1489–1495. PMID:25845698

Eugene P. Wigner’s Visionary Contributions to Generations-I through IV Fission Reactors

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Carré Frank

2014-01-01

Full Text Available Among Europe’s greatest scientists who fled to Britain and America in the 1930s, Eugene P. Wigner made instrumental advances in reactor physics, reactor design and technology, and spent nuclear fuel processing for both purposes of developing atomic weapons during world-war II and nuclear power afterwards. Wigner who had training in chemical engineering and self-education in physics first gained recognition for his remarkable articles and books on applications of Group theory to Quantum mechanics, Solid state physics and other topics that opened new branches of Physics.

[Baltic eugenics: Bio-politics, race and nation in interwar Estonia, Latvia and Lithuania 1918-1940] / Raiko Jäärats

Index Scriptorium Estoniae

Jäärats, Raiko, 1980-

2014-01-01

Arvustus: Baltic eugenics: Bio-politics, race and nation in interwar Estonia, Latvia and Lithuania 1918-1940 (On the boundary of two worlds. identity, fredom and moral imagination in the Baltics, 35). Hrsg. von Björn M. Felder und Paul J. Weindling. Rodopi, Amsterdam u.a. 2013

Radiosensitivity in Huntington's disease: implications for pathogenesis and presymptomatic diagnosis

International Nuclear Information System (INIS)

Moshell, A.N.; Tarone, R.E.; Barrett, S.F.; Robbins, J.H.

1980-01-01

Huntington's disease (HD) is a dominantly inherited fatal disorder characterised by premature death of nerve cells. Cultured lymphocyte lines from four patients with HD were abnormally sensitive to the lethal effects of X rays, as were lines from two of five subjects at risk for HD. The hypersensitivity is specific for ionising radiation, since HD lines had normal survival after exposure to ultraviolet radiation. The hypersensitivity, which may reflect an inherited defect in DNA repair, provides the basis for a presymptomatic diagnostic test for the disease. (author)

Eugenesia: Un análisis histórico y una posible propuesta Eugenia: Uma análise histórica e uma possível proposta Eugenics: A historical analysis and a possible proposal

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Fabiola Villela Cortés

2011-11-01

Full Text Available La eugenesia es un tema abordado, entre otros, por historiadores, filósofos, médicos, bioeticistas, por distintas razones. La idea de mejorar la raza humana siempre ha estado presente en la historia de la civilización, también han sido objeto de comentarios el intento de consolidarla como una ciencia, la presencia de movimientos eugenésicos en varios países del mundo, el holocausto nazi y, finalmente, el resurgimiento de la eugenesia a raíz de la decodificación del genoma humano. Nuestro objetivo es dar un repaso por los movimientos eugenésicos que tuvieron lugar a mediados del siglo XX, el resurgimiento de la eugenesia y los adelantos con los que contamos actualmente.A eugenia é um tema abordado, entre outros, por historiadores, filósofos, médicos, bioeticistas, e por diferentes razões. A ideia de melhorar a raça humana sempre tem estado presente na história da civilização. Também tem sido objeto de comentários a intenção de consolidá-la como uma ciência a presença de movimentos eugênicos em vários países do mundo, o holocausto nazista e, finalmente, o ressurgimento da eugenia na raíz da decodificação do genoma humano. Nosso objetivo é dar um repasso pelos movimentos eugênicos que tiveram lugar em meados do século XX, o ressurgimento da eugenia e os avanços com os quais contamos atualmente.Eugenics is a topic treated for several reasons by, among others, historians, philosophers, physicians, bioethicists. The idea to improve human race always has been present in the history of civilization, to try to consolidate it as a science also has been the object of commentaries, the presence of eugenic organizations in several countries, the nazi holocaust and finally, the eugenic resurgence since the human genome sequencing. Our objective is to review eugenic movements in the mid twentieth century, eugenic resurgence and current advancements.

Reduced gluconeogenesis and lactate clearance in Huntington's disease

DEFF Research Database (Denmark)

Josefsen, Knud; Nielsen, Signe M B; Campos, André

2010-01-01

We studied systemic and brain glucose and lactate metabolism in Huntington's disease (HD) patients in response to ergometer cycling. Following termination of exercise, blood glucose increased abruptly in control subjects, but no peak was seen in any of the HD patients (2.0 ± 0.5 vs. 0.0 ± 0.2mM, P...... HD mouse model R6/2 following a lactate challenge, combined with reduced phosphoenolpyruvate carboxykinase and increased pyruvate kinase activity in the mouse liver suggest a reduced capacity...... for gluconeogenesis in HD, possibly contributing to the clinical symptoms of HD. We propose that blood glucose concentration in the recovery from exercise can be applied as a liver function test in HD patients....

Complementary DNA cloning of the major allergen Phl p I from timothy grass (Phleum pratense); recombinant Phl p I inhibits IgE binding to group I allergens from eight different grass species

NARCIS (Netherlands)

Laffer, S.; Valenta, R.; Vrtala, S.; Susani, M.; van Ree, R.; Kraft, D.; Scheiner, O.; Duchêne, M.

1994-01-01

BACKGROUND: Grass pollens, such as pollen from timothy grass (Phleum pratense), represent a major cause of type I allergy. OBJECTIVE: In this report we attempted to determine how cross-reactive allergenic components of grass pollens from different species can be represented by a minimum number of

Minipig Model of Huntington's Disease: H-1 Magnetic Resonance Spectroscopy of the Brain

Czech Academy of Sciences Publication Activity Database

Jozefovičová, M.; Herynek, V.; Jírů, F.; Dezortová, M.; Juhásová, Jana; Juhás, Štefan; Motlík, Jan; Hájek, M.

2016-01-01

Roč. 65, č. 1 (2016), s. 155-163 ISSN 0862-8408 R&D Projects: GA TA ČR(CZ) TA01011466; GA MŠk(CZ) 7F14308; GA MŠk ED2.1.00/03.0124 Institutional support: RVO:67985904 Keywords : Huntington´s disease * minipigs * magnetic resonance spectroscopy Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.461, year: 2016

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

DEFF Research Database (Denmark)

Lee, J-M; Ramos, E M; Lee, J-H

2012-01-01

Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat. The length of the normal CAG repeat allele has been reported also to influence age at onset, in interaction with the expanded allele. Due to profound...

76 FR 33341 - Notice of Intent to prepare a Resource Management Plan for the West Eugene Wetlands Planning Area...

Science.gov (United States)

2011-06-08

... DEPARTMENT OF THE INTERIOR Bureau of Land Management [LLORE00000 L63500000.DO0000.LXSS021H0000.HAG11-0203] Notice of Intent to prepare a Resource Management Plan for the West Eugene Wetlands Planning... Management, Interior. ACTION: Notice of Intent. SUMMARY: In compliance with the National Environmental Policy...

Scientific heritage of Eugene Nikolaevich Savin (07.11.1921–12.02.2017

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A. I. Lobanov

2018-02-01

Full Text Available The analysis of the achievements and scientific heritage of a prominent scientist in the field of forest science, forestry, agroforest amelioration, and protective afforestation, the veteran of the Great Patriotic War, doctor of agricultural sciences, professor, the honored worker of forestry and hunting of Mongolia – Eugene Nikolaevich Savin is given. He made a significant contribution to the development of the scientific basis for agroforestry and protective afforestation, to substantiate the main directions of forest management in different zones and groups of forest types in the Russian Federation and in Mongolia, to develop a master plan for the integrated use of forest resources in Mongolia, to determine the nature of cuttings and the age of final felling for the main forest-forming species, the development of methods of cultivation and the creation of the first industrial forest crops of the Siberian larch and Scotch pine, the creation of a handbook for the inventory of Mongolia forests (2012. In doing so, he revealed the main aspects of the nature of the forest, its functioning, provided information on the composition of tree species, types of stands, methods of restoration and care. Due attention is paid to the water protection and soil protection role of forests. The results of Eugene Nikolaevich Savin research are of current importance for silvicultural, forest crop and agroforest amelioration works. They are included in the normative documents approved at the federal level. The list of his main scientific publications is presented, which just gives an idea of the subject of research, their geography and significance.

Contribution of Neuroepigenetics to Huntington's Disease.

Science.gov (United States)

Francelle, Laetitia; Lotz, Caroline; Outeiro, Tiago; Brouillet, Emmanuel; Merienne, Karine

2017-01-01

Unbalanced epigenetic regulation is thought to contribute to the progression of several neurodegenerative diseases, including Huntington's disease (HD), a genetic disorder considered as a paradigm of epigenetic dysregulation. In this review, we attempt to address open questions regarding the role of epigenetic changes in HD, in the light of recent advances in neuroepigenetics. We particularly discuss studies using genome-wide scale approaches that provide insights into the relationship between epigenetic regulations, gene expression and neuronal activity in normal and diseased neurons, including HD neurons. We propose that cell-type specific techniques and 3D-based methods will advance knowledge of epigenome in the context of brain region vulnerability in neurodegenerative diseases. A better understanding of the mechanisms underlying epigenetic changes and of their consequences in neurodegenerative diseases is required to design therapeutic strategies more effective than current strategies based on histone deacetylase (HDAC) inhibitors. Researches in HD may play a driving role in this process.

[Eugenic abortion could explain the lower infant mortality in Cuba compared to that in Chile].

Science.gov (United States)

Donoso S, Enrique; Carvajal C, Jorge A

2012-08-01

Cuba and Chile have the lower infant mortality rates of Latin America. Infant mortality rate in Cuba is similar to that of developed countries. Chilean infant mortality rate is slightly higher than that of Cuba. To investigate if the lower infant mortality rate in Cuba, compared to Chile, could be explained by eugenic abortion, considering that abortion is legal in Cuba but not in Chile. We compared total and congenital abnormalities related infant mortality in Cuba and Chile during 2008, based on vital statistics of both countries. In 2008, infant mortality rates in Chile were significantly higher than those of Cuba (7.8 vs. 4.7 per 1,000 live born respectively, odds ratio (OR) 1.67; 95% confidence intervals (Cl) 1.52-1.83). Congenital abnormalities accounted for 33.8 and 19.2% of infant deaths in Chile and Cuba, respectively. Discarding infant deaths related to congenital abnormalities, infant mortality rate continued to be higher in Chile than in Cuba (5.19 vs. 3.82 per 1000 live born respectively, OR 1.36; 95%CI 1.221.52). Considering that antenatal diagnosis is widely available in both countries, but abortion is legal in Cuba but not in Chile, we conclude that eugenic abortion may partially explain the lower infant mortality rate observed in Cuba compared to that observed in Chile.

75 FR 11939 - Fisher & Paykel Appliances, Inc., Huntington Beach, CA; Notice of Termination of Investigation

Science.gov (United States)

2010-03-12

... DEPARTMENT OF LABOR Employment and Training Administration [TA-W-71,749] Fisher & Paykel Appliances, Inc., Huntington Beach, CA; Notice of Termination of Investigation Pursuant to Section 221 of the Trade Act of 1974, as amended, an investigation was initiated in response to a petition filed on July 21...

Dynamics of the connectome in Huntington's disease: A longitudinal diffusion MRI study

OpenAIRE

Odish, Omar F.F.; Caeyenberghs, Karen; Hosseini, Hadi; van den Bogaard, Simon J.A.; Roos, Raymund A.C.; Leemans, Alexander

2015-01-01

Abstract Objectives To longitudinally investigate the connectome in different stages of Huntington's disease (HD) by applying graph theoretical analysis to diffusion MRI data. Experimental design We constructed weighted structural networks and calculated their topological properties. Twenty-two premanifest (preHD), 10 early manifest HD and 24 healthy controls completed baseline and 2 year follow-up scans. We stratified the preHD group based on their predicted years to disease onset into a far...

Structural imaging in premanifest and manifest Huntington disease.

Science.gov (United States)

Scahill, Rachael I; Andre, Ralph; Tabrizi, Sarah J; Aylward, Elizabeth H

2017-01-01

Huntington disease (HD) neuropathology has a devastating effect on brain structure and consequently brain function; neuroimaging provides a means to assess these effects in gene carriers. In this chapter we first outline the unique utility of structural imaging in understanding HD and discuss some of the acquisition and analysis techniques currently available. We review the existing literature to summarize what we know so far about structural brain changes across the spectrum of disease from premanifest through to manifest disease. We then consider how these neuroimaging findings relate to patient function and nonimaging biomarkers, and can be used to predict disease onset. Finally we review the utility of imaging measures for assessment of treatment efficacy in clinical trials. Copyright © 2017 Elsevier B.V. All rights reserved.

Nucleic Acid-Based Therapy Approaches for Huntington's Disease

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Tatyana Vagner

2012-01-01

Full Text Available Huntington's disease (HD is caused by a dominant mutation that results in an unstable expansion of a CAG repeat in the huntingtin gene leading to a toxic gain of function in huntingtin protein which causes massive neurodegeneration mainly in the striatum and clinical symptoms associated with the disease. Since the mutation has multiple effects in the cell and the precise mechanism of the disease remains to be elucidated, gene therapy approaches have been developed that intervene in different aspects of the condition. These approaches include increasing expression of growth factors, decreasing levels of mutant huntingtin, and restoring cell metabolism and transcriptional balance. The aim of this paper is to outline the nucleic acid-based therapeutic strategies that have been tested to date.

Deficient Rab11 activity underlies glucose hypometabolism in primary neurons of Huntington's disease mice

Energy Technology Data Exchange (ETDEWEB)

Li, Xueyi, E-mail: xli12@partners.org [Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA 02129 (United States); Valencia, Antonio; McClory, Hollis; Sapp, Ellen; Kegel, Kimberly B. [Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA 02129 (United States); DiFiglia, Marian, E-mail: difiglia@helix.mgh.harvard.edu [Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA 02129 (United States)

2012-05-18

Highlights: Black-Right-Pointing-Pointer Primary Huntington's disease neurons are impaired in taking up glucose. Black-Right-Pointing-Pointer Rab11 modulates glucose uptake in neurons. Black-Right-Pointing-Pointer Increasing Rab11 activity attenuates the glucose uptake defect in disease neurons. Black-Right-Pointing-Pointer We provide a novel mechanism for glucose hypometabolism in Huntington's disease. -- Abstract: Huntington's disease (HD) is a progressive neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin gene. Positron emission tomography studies have revealed a decline in glucose metabolism in the brain of patients with HD by a mechanism that has not been established. We examined glucose utilization in embryonic primary cortical neurons of wild-type (WT) and HD knock-in mice, which have 140 CAG repeats inserted in the endogenous mouse huntingtin gene (HD{sup 140Q/140Q}). Primary HD{sup 140Q/140Q} cortical neurons took up significantly less glucose than did WT neurons. Expression of permanently inactive and permanently active forms of Rab11 correspondingly altered glucose uptake in WT neurons, suggesting that normal activity of Rab11 is needed for neuronal uptake of glucose. It is known that Rab11 activity is diminished in HD{sup 140Q/140Q} neurons. Expression of dominant active Rab11 to enhance the activity of Rab11 normalized glucose uptake in HD{sup 140Q/140Q} neurons. These results suggest that deficient activity of Rab11 is a novel mechanism for glucose hypometabolism in HD.

Periodontitis determining the onset and progression of Huntington's disease: review of the literature

Directory of Open Access Journals (Sweden)

María Lourdes Rodríguez Coyago

2015-10-01

Full Text Available La enfermedad de Hungtinton es un trastorno neurodegenerativo, causado por la expansión de un triplete de citosina, adenina, guanina en el gen de la huntingtina. Se manifiesta con un deterioro físico, cognitivo y psiquiátrico a distintas edades en el adulto, con un pronóstico fatal. Además del número de repeticiones del triplete, existirían otros factores que explicarían el inicio de esta enfermedad a más temprana edad. Se sabe que la neuroinflamación es un protagonista en los trastornos neurodegenerativos, no siendo la enfermedad de Huntington una excepción. La neuroinflamación exacerba el daño neuronal producido por la mutación, al existir activación aberrante de la célula microglía, disfunción de astrocitos y células dendríticas; compromiso de la barrera hematoencefálica y activación de complemento, todas ellas como efecto directo e indirecto de la mutante y otros estímulos como infecciones crónicas. Es el interés del presente trabajo analizar la periodontitis, como modelo de infección bucodental crónica y fuente de inflamación sistémica. Hipotetizamos que el potencial rol de la periodontitis en la enfermedad de Huntington y los mecanismos por los cuales contribuiría a la manifestación temprana y progreso de dicha enfermedad, para lo cual se consideraron revisiones sistemáticas, metanálisis y estudios experimentales publicados tanto en español como en inglés obtenidos del PubMed y SciELO. Son diversos los mecanismos que generan inflamación en el cerebro de estos pacientes, adquiriendo especial protagonismo los mecanismos de la inmunidad innata. Las infecciones buco dentarias crónicas, como la enfermedad periodontal, pueden constituir un factor exacerbante de la neuroinflamación que per se asocia la enfermedad de Huntington.

Dysfunctional mitochondrial respiration in the striatum of the Huntington's disease transgenic R6/2 mouse model

DEFF Research Database (Denmark)

Aidt, Frederik Heurlin; Nielsen, Signe Marie Borch; Kanters, Jørgen

2013-01-01

Metabolic dysfunction and mitochondrial involvement are recognised as part of the pathology in Huntington's Disease (HD). Post-mortem examinations of the striatum from end-stage HD patients have shown a decrease in the in vitro activity of complexes II, III and IV of the electron transport system...

"Democracy was never intended for degenerates": Alberta's flirtation with eugenics comes back to haunt it.

OpenAIRE

Cairney, R

1996-01-01

An Alberta woman recently won a lawsuit against the government of Alberta for wrongful sterilization that took place when she was a 14-year-old ward at the Provincial Training School for Mental Defectives. It was the first time the province has been held accountable for actions taken under the Sexual Sterilization Act, a 1927 law that promoted the theory of eugenics and led to the sterilization of more than 2800 people. It has since been repealed. A physician who served on the province's Euge...

Eugene Onegin the Cold War Monument: How Edmund Wilson Quarreled with Vladimir Nabokov

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Tim Conley

2014-01-01

Full Text Available The tale of how Edmund Wilson quarreled with Vladimir Nabokov over the latter’s 1964 translation of Eugene Onegin can be instructively read as a politically charged event, specifically a “high culture” allegory of the Cold War. Dissemination of anti-Communist ideals (often in liberal and literary guises was the mandate of the Congress for Cultural Freedom, whose funding and editorial initiatives included the publication of both pre-Revolution Russian literature and, more notoriously, the journal Encounter (1953-1990, where Nabokov’s fiery “Reply” to Wilson appeared. This essay outlines the propaganda value of the Onegin debate within and to Cold War mythology.

Nonparametric estimation for censored mixture data with application to the Cooperative Huntington's Observational Research Trial.

Science.gov (United States)

Wang, Yuanjia; Garcia, Tanya P; Ma, Yanyuan

2012-01-01

This work presents methods for estimating genotype-specific distributions from genetic epidemiology studies where the event times are subject to right censoring, the genotypes are not directly observed, and the data arise from a mixture of scientifically meaningful subpopulations. Examples of such studies include kin-cohort studies and quantitative trait locus (QTL) studies. Current methods for analyzing censored mixture data include two types of nonparametric maximum likelihood estimators (NPMLEs) which do not make parametric assumptions on the genotype-specific density functions. Although both NPMLEs are commonly used, we show that one is inefficient and the other inconsistent. To overcome these deficiencies, we propose three classes of consistent nonparametric estimators which do not assume parametric density models and are easy to implement. They are based on the inverse probability weighting (IPW), augmented IPW (AIPW), and nonparametric imputation (IMP). The AIPW achieves the efficiency bound without additional modeling assumptions. Extensive simulation experiments demonstrate satisfactory performance of these estimators even when the data are heavily censored. We apply these estimators to the Cooperative Huntington's Observational Research Trial (COHORT), and provide age-specific estimates of the effect of mutation in the Huntington gene on mortality using a sample of family members. The close approximation of the estimated non-carrier survival rates to that of the U.S. population indicates small ascertainment bias in the COHORT family sample. Our analyses underscore an elevated risk of death in Huntington gene mutation carriers compared to non-carriers for a wide age range, and suggest that the mutation equally affects survival rates in both genders. The estimated survival rates are useful in genetic counseling for providing guidelines on interpreting the risk of death associated with a positive genetic testing, and in facilitating future subjects at risk

Alpha-7 nicotinic acetylcholine receptor agonist treatment in a rat model of Huntington's disease and involvement of heme oxygenase-1

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Laura Foucault-Fruchard

2018-01-01

Full Text Available Neuroinflammation is a common element involved in the pathophysiology of neurodegenerative diseases. We recently reported that repeated alpha-7 nicotinic acetylcholine receptor (α7nAChR activations by a potent agonist such as PHA 543613 in quinolinic acid-injured rats exhibited protective effects on neurons. To further investigate the underlying mechanism, we established rat models of early-stage Huntington's disease by injection of quinolinic acid into the right striatum and then intraperitoneally injected 12 mg/kg PHA 543613 or sterile water, twice a day during 4 days. Western blot assay results showed that the expression of heme oxygenase-1 (HO-1, the key component of the cholinergic anti-inflammatory pathway, in the right striatum of rat models of Huntington's disease subjected to intraperitoneal injection of PHA 543613 for 4 days was significantly increased compared to the control rats receiving intraperitoneal injection of sterile water, and that the increase in HO-1 expression was independent of change in α7nAChR expression. These findings suggest that HO-1 expression is unrelated to α7nAChR density and the increase in HO-1 expression likely contributes to α7nAChR activation-related neuroprotective effect in early-stage Huntington's disease.

Insights into gait disorders: walking variability using phase plot analysis, Huntington's disease.

Science.gov (United States)

Collett, Johnny; Esser, Patrick; Khalil, Hanan; Busse, Monica; Quinn, Lori; DeBono, Katy; Rosser, Anne; Nemeth, Andrea H; Dawes, Helen

2014-09-01

Huntington's disease (HD) is a progressive inherited neurodegenerative disorder. Identifying sensitive methodologies to quantitatively measure early motor changes have been difficult to develop. This exploratory observational study investigated gait variability and symmetry in HD using phase plot analysis. We measured the walking of 22 controls and 35 HD gene carriers (7 premanifest (PreHD)), 16 early/mid (HD1) and 12 late stage (HD2) in Oxford and Cardiff, UK. The unified Huntington's disease rating scale-total motor scores (UHDRS-TMS) and disease burden scores (DBS) were used to quantify disease severity. Data was collected during a clinical walk test (8.8 or 10 m) using an inertial measurement unit attached to the trunk. The 6 middle strides were used to calculate gait variability determined by spatiotemporal parameters (co-efficient of variation (CoV)) and phase plot analysis. Phase plots considered the variability in consecutive wave forms from vertical movement and were quantified by SDA (spatiotemporal variability), SDB (temporal variability), ratio ∀ (ratio SDA:SDB) and Δangleβ (symmetry). Step time CoV was greater in manifest HD (p0.05). Phase plot analysis identified differences between manifest HD and controls for SDB, Ratio ∀ and Δangle (all pplot analysis may be a sensitive method of detecting gait changes in HD and can be performed quickly during clinical walking tests. Copyright © 2014 Elsevier B.V. All rights reserved.

Prince Eugene and Maria Theresa: Gender, History, and Memory in Hofmannsthal in the First World War

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Wolfgang Nehring

2007-01-01

Full Text Available Hugo von Hofmannsthal was one of the Austrian poets and intellectuals who took an active part in the historical-political events of 1914. He expected from the war a new vitality of public life and an end of the cultural crisis. In his early years he had advocated closer bonds between poesy and life. Now he encountered a situation that gave him the chance to strengthen his ties with reality. He worried about the existence of Austria, in which he was rooted, and tried to conjure up the Hapsburg spirit of the past for his contemporaries and to explain Austria's national history and right to exist to a large public. My study discusses his essay on Prince Eugene and Maria Theresa in the context of collective memory (or cultural memory and propaganda. Is there really a collective memory? Was there a collective memory, in which the great commander and the empress lived on, or did the author wish to create this memory from history? Should his essays be considered war propaganda? Self-assertion of Austria opposite the German ally appeared almost equally important. The change in emphasis from Prince Eugene as the greatest Austrian to the peace-loving empress mirrors the events of the war. Both contribute to an Austrian anthropology, which for the author lived on beyond the end of the Empire.

The roles of family members, health care workers, and others in decision-making processes about genetic testing among individuals at risk for Huntington disease.

Science.gov (United States)

Klitzman, Robert; Thorne, Deborah; Williamson, Jennifer; Marder, Karen

2007-06-01

To understand how individuals at risk for Huntington disease view the roles of others, e.g., family members and health care workers, in decision making about genetic testing. Twenty-one individuals (eight mutation-positive, four mutation-negative, and nine not tested) were interviewed for approximately 2 hours each. Interviewees illuminated several key aspects of the roles of family members and health care workers (in genetics and other fields) in decision making about testing that have been underexplored. Family members often felt strongly about whether an individual should get tested. Health care workers provided information and assistance with decision making and mental health referrals that were often helpful. Yet health care workers varied in knowledge and sensitivity regarding testing issues, and the quality of counseling and testing experiences can range widely. At times, health care workers without specialized knowledge of Huntington disease offered opinions of whether to test. Input from families and health care workers could also conflict with each other and with an individual's own preferences. Larger institutional and geographic contexts shaped decisions as well. Decision-making theories applied to Huntington disease testing have frequently drawn on psychological models, yet the current data highlight the importance of social contexts and relationships in testing decisions. This report, the first to our knowledge to explore individuals' perceptions of social factors (particularly family and health care worker involvement) in Huntington disease testing decisions, has critical implications for practice, education, research, and policy.

Eugenia negativa e positiva: significados e contradições Eugenesia negativa y positiva: significados y contradicciones Negative and positive eugenics: meanings and contradictions

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Lilian Denise Mai

2006-04-01

Full Text Available A prática da eugenia constitui importante tema de debate associado aos atuais avanços biogenéticos. Considerando que a centralidade da eugenia é a preocupação com a saúde e constituição das futuras gerações, e que a utilização de meios e conhecimentos científicos em prol do nascimento de uma criança física e mentalmente saudável pode ser considerada uma ação eugênica, pretende-se, nesse texto, analisar significados e contradições das ações eugenistas negativas e positivas, construídos concomitantes aos avanços técnico-científicos do século XX. Conclui-se que os significados transitam, respectivamente, em torno de limitar ou estimular a reprodução humana, no início do século, até prevenir doenças ou melhorar características físicas e mentais, na atualidade. Implementando ações, produziram-se contradições, como a discriminação e eliminação de muitas pessoas frente a um ideal de homem, à biologização de fatores eminentemente sociais, à defesa da pretensa neutralidade científica e ao uso indiscriminado do direito de escolha reprodutiva.La práctica de la eugenesia es un importante tema de debate, ligado a los avances biogenéticos actuales. Considerando que la cuestión central de la eugenesia es la preocupación con la salud y la constitución de las futuras generaciones y que la utilización de medios y conocimientos científicos en función del nacimiento de un niño física y mentalmente saludable puede ser considerada una acción eugenésica, en este texto se pretende analizar los significados y contradicciones de las acciones eugenésicas negativas y positivas, construidos concomitantes a los avances técnico-científicos del siglo XX. Se concluye que los significados giran, respectivamente, en torno de limitar o estimular la reproducción humana, al comienzo del siglo, hasta prevenir enfermedades o mejorar características físicas y mentales, en la actualidad. Implementando acciones, se

Rhes deletion is neuroprotective in the 3-nitropropionic acid model of Huntington's disease

OpenAIRE

Mealer, Robert G.; Subramaniam, Srinivasa; Snyder, Solomon H.

2013-01-01

Although the mutated protein causing Huntington's disease (HD) is expressed throughout the body, the major pathology of HD is localized to the striatum of the brain. We previously reported that the striatal-enriched protein Rhes binds the mutated huntingtin protein and enhances its cytotoxicity. We now demonstrate that Rhes-deleted mice are dramatically protected from neurotoxicity and motor dysfunction in a striatal-specific model of HD elicited by 3-nitropropionic acid. This finding suggest...

Effect of nitrogen fertilization on the protein quality of timothy grass and silage

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Liisa Syrjälä-Qvist

1984-09-01

Full Text Available Timothy grass given N fertilizer at the rates of 40, 80 and 120 kg N/ha was preserved in 3 glass-fibre silos of 0.4 m3. The crude protein content of DM in the grass increased with the increase of N fertilization as follows: N40 14.8 %, N80 18.4 % and N120 22.1 %, but the proportion of true protein in crude protein decreased: N40 82 %, N80 78 % and N120 76 %. The proportion of watersoluble N in the total N in the grass was: N40 27 %, N80 30 % and N120 33 %. The higher was the N fertilization level, the more rapidly was the protein of the grass degraded in the rumen. The amino acid profile of the protein was similar at all the N fertilization levels. The quality of all the silages was good. The NH3-N fraction of total N was 2.8—3.9 % and the proportion of water-soluble N in total N was 51—55 %, In silage the decrease during ensiling in the proportion of true protein in crude protein and the increase in the proportion of water-soluble N in total N were smaller than in the other silages. The rumen degradability of protein during the first two hours was also lowest in this silage.

Destination and source memory in Huntington's disease.

Science.gov (United States)

El Haj, Mohamad; Caillaud, Marie; Verny, Christophe; Fasotti, Luciano; Allain, Philippe

2016-03-01

Destination memory refers to the recall of the destination of previously relayed information, and source memory refers to the recollection of the origin of received information. We compared both memory systems in Huntington's disease (HD) participants. For this, HD participants and healthy adults had to put 12 items in a black or a white box (destination task), and to extract another 12 items from a blue or a red box (source task). Afterwards, they had to decide in which box each item had previously been deposited (destination memory), and from which box each item had previously been extracted (source memory). HD participants showed poorer source as well as destination recall performance than healthy adults in the proposed tasks. Correlation analysis showed that destination recall was significantly correlated with episodic recall in HD participants. Destination memory impairment in HD participants seems to be considerably influenced by their episodic memory performance. © 2014 The British Psychological Society.

Assessing Impairment of Executive Function and Psychomotor Speed in Premanifest and Manifest Huntington's Disease Gene-expansion Carriers

DEFF Research Database (Denmark)

Unmack Larsen, Ida; Vinther-Jensen, Tua; Gade, Anders

2015-01-01

Executive functions (EF) and psychomotor speed (PMS) has been widely studied in Huntington's disease (HD). Most studies have focused on finding markers of disease progression by comparing group means at different disease stages. Our aim was to investigate performances on nine measures of EF and PMS...

Karl Pearson and eugenics: personal opinions and scientific rigor.

Science.gov (United States)

Delzell, Darcie A P; Poliak, Cathy D

2013-09-01

The influence of personal opinions and biases on scientific conclusions is a threat to the advancement of knowledge. Expertise and experience does not render one immune to this temptation. In this work, one of the founding fathers of statistics, Karl Pearson, is used as an illustration of how even the most talented among us can produce misleading results when inferences are made without caution or reference to potential bias and other analysis limitations. A study performed by Pearson on British Jewish schoolchildren is examined in light of ethical and professional statistical practice. The methodology used and inferences made by Pearson and his coauthor are sometimes questionable and offer insight into how Pearson's support of eugenics and his own British nationalism could have potentially influenced his often careless and far-fetched inferences. A short background into Pearson's work and beliefs is provided, along with an in-depth examination of the authors' overall experimental design and statistical practices. In addition, portions of the study regarding intelligence and tuberculosis are discussed in more detail, along with historical reactions to their work.

Variance of the SGK1 gene is associated with insulin secretion in different European populations: results from the TUEF, EUGENE2, and METSIM studies

DEFF Research Database (Denmark)

Friedrich, Björn; Weyrich, Peter; Stancáková, Alena

2008-01-01

gene (SGK) variations and insulin secretion traits. The German TUEF project provided the screening population (N = 725), and four tagging SNPs (rs1763527, rs1743966, rs1057293, rs9402571) were investigated. EUGENE2 (N = 827) served as a replication cohort for the detected associations. Finally...... secretion only remained significant in lean TUEF participants (BMIEUGENE2 rs9402571 minor allele carriers, who had a significantly higher AUC(Ins)/AUC(Glc) (TT: 226+/-7, XG: 246+/-9; p = 0.019). Accordingly, the METSIM trial revealed a lower prevalence of type...... 2 diabetes (OR: 0.85; 95%CI: 0.71-1.01; p = 0.065, dominant model) in rs9402571 minor allele carriers. CONCLUSIONS: The rs9402571 SGK genotype associates with increased insulin secretion in lean non-diabetic TUEF/EUGENE2 participants and with lower diabetes prevalence in METSIM. Our study in three...

Sodium phenylbutyrate in Huntington's disease: a dose-finding study.

Science.gov (United States)

Hogarth, Penelope; Lovrecic, Luca; Krainc, Dimitri

2007-10-15

Transcriptional dysregulation in Huntington's disease (HD) is mediated in part by aberrant patterns of histone acetylation. We performed a dose-finding study in human HD of sodium phenylbutyrate (SPB), a histone deacetylase inhibitor that ameliorates the HD phenotype in animal models. We used a dose-escalation/de-escalation design, using prespecified toxicity criteria and standard clinical and laboratory safety measures. The maximum tolerated dose was 15 g/day. At higher doses, toxicity included vomiting, lightheadedness, confusion, and gait instability. We saw no significant laboratory or electrocardiographic abnormalities. Gene expression changes in blood suggested an inverse dose-response. In conclusion, SPB at 12 to 15 g/day appears to be safe and well-tolerated in human HD. 2007 Movement Disorder Society

[Speed of ocular saccades in Huntington disease. Prospective study].

Science.gov (United States)

García Ruiz, P J; Cenjor, C; Ulmer, E; Hernández, J; Cantarero, S; Fanjul, S; García de Yébenes, J

2001-02-01

Oculomotor abnormalities, especially slow saccades, have long been recognized in Huntington's disease (HD). To study prospectively horizontal saccade velocity by videonystagmography in 21 patients with genetically confirmed HD. The study included a baseline analysis and a second evaluation after 18.8 +/- 7.1 months. We included a control group of 15 subjects. HD group exhibited decreased saccade velocity when compared with that from a control group (for predictive and unpredictive target). HD patients showed decreased saccade velocity with the passage of time (for predictive target, p < 0.01). Finally we found statistical significant correlation between saccade velocity and triplet length. The measurement of saccade velocity might be an objective method to study the natural evolution of HD, and thus evaluate the effectiveness of future therapies.

Study of protein O-GlcNAcylation in the brain tissue in Huntington´s disease

Czech Academy of Sciences Publication Activity Database

Ondrušková, N.; Rodinová, M.; Kratochvílová, H.; Klempíř, J.; Roth, J.; Motlík, Jan; Radoslav, M.; Zeman, J.; Hansíková, H.

2015-01-01

Roč. 78, Suppl 2 (2015), s. 20-20 ISSN 1210-7859. [Conference on Animal Models for neurodegenerative Diseases /3./. 08.11.2015-10.11.2015, Liblice] R&D Projects: GA MŠk(CZ) 7F14308; GA MŠk ED2.1.00/03.0124 Institutional support: RVO:67985904 Keywords : Huntington ´s disease * glycosylation * N-acetylglucosamine Subject RIV: FH - Neurology

Grunting in genetically modified minipig animal model for Huntington ´s disease - a pilot experiment

Czech Academy of Sciences Publication Activity Database

Tykalová, T.; Hlavnička, J.; Mačáková, Monika; Baxa, Monika; Cmejla, R.; Motlík, Jan; Klempíř, J.; Rusz, J.

2015-01-01

Roč. 78, Suppl 2 (2015), s. 12-13 ISSN 1210-7859. [Conference on Animal Models for neurodegenerative Diseases /3./. 08.11.2015-10.11.2015, Liblice] R&D Projects: GA MŠk ED2.1.00/03.0124; GA MŠk(CZ) 7F14308 Institutional support: RVO:67985904 Keywords : Huntington ´s disease * mitochondria * DNA damage Subject RIV: FH - Neurology

Pre-clinical evaluation of AAV5-miHTT gene therapy of Huntington´s disease

Czech Academy of Sciences Publication Activity Database

Konstantinová, P.; Miniarikova, J.; Blits, B.; Zimmer, V.; Spoerl, A.; Southwell, A.; Hayden, M.; van Deventer, S.; Deglon, N.; Motlík, Jan; Juhás, Štefan; Juhásová, Jana; Richard, Ch.; Petry, H.

2015-01-01

Roč. 78, Supl 2 (2015), s. 8-8 ISSN 1210-7859. [Conference on Animal Models for neurodegenerative Diseases /3./. 08.11.2015-10.11.2015, Liblice] R&D Projects: GA MŠk ED2.1.00/03.0124 Institutional support: RVO:67985904 Keywords : Huntington ´s disease * gene therapy * AAV5-miHTT Subject RIV: EB - Genetics ; Molecular Biology

El papel de la terapia ocupacional en la enfermedad de Huntington

OpenAIRE

Hernández Lozano, David; Fernández Hawrylak, María; Grau Rubio, Claudia

2014-01-01

se analiza el papel del terapeuta ocupacional en el trabajo con las personas afectadas por la enfermedad de Huntington. se realizó una investigación por objetivos a través del diseño y puesta en práctica de un programa de intervención encaminado a mitigar el deterioro producido por la enfermedad mediante el entrenamiento en actividades de la vida diaria y de estimulación cognitiva, y a desarrollar competencias en la familia. la investigación se desarrolló en la Asociación de corea de Huntingt...

Avoiding genetic genocide: understanding good intentions and eugenics in the complex dialogue between the medical and disability communities.

Science.gov (United States)

Miller, Paul Steven; Levine, Rebecca Leah

2013-02-01

The relationship between the medical and disability communities is complex and is influenced by historical, social, and cultural factors. Although clinicians, health-care researchers, and people with disabilities all work from the standpoint of the best interest of disabled individuals, the notion of what actually is "best" is often understood quite differently among these constituencies. Eugenics campaigns, legal restrictions on reproductive and other freedoms, and prenatal testing recommendations predicated on the lesser worth of persons with disabilities have all contributed toward the historic trauma experienced by the disability community, particularly with respect to medical genetics. One premise of personalized medicine is that different individuals require different solutions. Disabled persons' experiences are a reminder that these solutions can be best realized by maintaining awareness and sensitivity in a complex ethical and moral terrain. Geneticists should recognize that their research may have implications for those with disabilities; they should recognize the impact of the historical trauma of the eugenics movement, and seek to involve people with disabilities in discussions about policies that affect them. Dialogue can be messy and uncomfortable, but it is the only way to avoid the mistakes of the past and to ensure a more equitable, and healthful, future.

Internal consistency of a Brazilian version of the unified Huntington's disease rating scale Consistência interna da versão brasileira da escala unificada para avaliação da doença da Huntington

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Vitor Tumas

2004-12-01

Full Text Available We evaluated the reliability of a translated Brazilian version of the Unified Huntington's Disease Rating Scale (UHDRS to establish the reproducibility of the scale in a population that differs substantially from that on which the scale was originally validated. After a training period with the video and guidelines requested from the Huntington Study Group, we applied the UHDRS, except for the cognitive tests, to a group of 21 Brazilian patients with a molecular diagnosis of Huntington's disease (HD. We found a high degree of internal consistency of the motor section of the UHDRS (Cronbach's alpha= 0.841. There was a negative correlation between the total motor score and the functional assessment, the independence scale and the functional capacity. There was a positive correlation between these 3 scales of functional evaluation and a negative correlation between the age of onset of the disease and the number of CAG repeats. The behavioral scale and disease duration were not correlated with any factor. The clinical characteristics of this sample of patients as described by the UHDRS were roughly similar to those reported in the original validation studies and the correlations described were similar to those reported previously. We conclude that the Brazilian version of the UHDRS is reliable and valid to study patients with HD in the Brazilian setting, that this sample of Brazilian patients had clinical characteristics similar to those observed in other world regions, as expected, and that the clinical training method used for the application of the UHDRS was effective to insure a high degree of clinical reproducibility.Nosso estudo avaliou a confiabilidade da versão brasileira da escala unificada para avaliação da doença de Huntington (UHDRS com o objetivo de estabelecer a reprodutibilidade dessa escala em uma população que difere significativamente daquela em que foi originalmente validada. Após um período de treinamento com um v

Flinders Petrie and Eugenics at UCL

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Kathleen L. Sheppard

2010-05-01

Full Text Available William Matthew Flinders Petrie is considered the father of scientific archaeology and is credited with developing a chronology of Ancient Egypt using the nondescript artefacts that other archaeologists had ignored. He occupied the first chair of Egyptology in England, and was also well-known for the museum built around his personal collection of Egyptian artifacts at University College London. Petrie's archaeological work has been studied by scholars, from various disciplines, for its scholarly, cultural, and historical value, while Petrie's life and career outside of archaeology have been the subject of relatively little study. Petrie himself wrote two life stories: the first, 'Ten Years Digging in Egypt, 1881–1891' (1892, detailed the years before his professorship at UCL; in 1932 he published his second, more complete autobiography, 'Seventy Years in Archaeology'. After he died in 1942 there were various obituaries and memorials that outlined his life and major achievements in archaeology. There was very little written about Petrie the man until 1985, when Margaret Drower's 'Flinders Petrie: A Life in Archaeology' was published; it remains the most comprehensive work on Petrie's life. A thin volume of the correspondence of Hilda and Flinders Petrie also allows a glimpse into life on excavation. In short, much of what is known about Petrie focuses on his excavations in Egypt, his time as Professor of Egyptology at University College London, or the museum that bears his name. Subsequently, as a historical matter, Petrie's work in the discipline of eugenics has rarely been discussed as part of his career.

The role of the physician: Eugene Sanger and a standard of care at the Elmira prison camp.

Science.gov (United States)

Waggoner, Jesse

2008-01-01

The conduct of American military physicians in prisoner of war (POW) camps has been called into question by the abuse scandals at Abu Ghraib and Guantánamo Bay. This essay explores the experiences of the first U.S. military physicians to confront POW patients in large numbers-events that occurred during the American Civil War. While POWs received sub-standard care in camps north and south, the war also saw the issuance of the first document to outline the rights of POWs. This ambivalence toward the proper care and treatment of the POW is evident in the career of Dr. Eugene Sanger, the first Union surgeon at the prison camp in Elmira, New York. Sanger demonstrated both concern about the sanitary condition of the camp and pride in the deaths of POWs as furthering the overall war aims. His cruelty attracted some censure, but Sanger never faced disciplinary action. He was honorably discharged and went on to become the Surgeon General of his home state. This article places his actions at Elmira in the context of medical ethics, Army orders, and Northern opinion in 1864, and it will argue that the lack of Federal response to Eugene Sanger's poor record while serving at the prison set a precedent for inferior medical care of POWs by American military physicians.

Contraception or eugenics? Sterilization and "mental retardation" in the 1970s and 1980s.

Science.gov (United States)

Ladd-Taylor, Molly

2014-01-01

Nonconsensual sterilization is usually seen as the by-product of a classist and racist society; disability is ignored. This article examines the 1973 sterilization of two young black girls from Alabama and other precedent-setting court cases involving the sterilization of "mentally retarded" white women to make disability more central to the historical analysis of sterilization. It analyzes the concept of mental retardation and the appeal of a surgical solution to birth control, assesses judicial deliberations over the "right to choose" contraceptive sterilization when the capacity to consent is in doubt, and reflects on the shadow of eugenics that hung over the sterilization debate in the 1970s and 1980s.

Inhibition of the striatal specific phosphodiesterase PDE10A ameliorates striatal and cortical pathology in R6/2 mouse model of Huntington's disease.

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Carmela Giampà

2010-10-01

Full Text Available Huntington's disease is a devastating neurodegenerative condition for which there is no therapy to slow disease progression. The particular vulnerability of striatal medium spiny neurons to Huntington's pathology is hypothesized to result from transcriptional dysregulation within the cAMP and CREB signaling cascades in these neurons. To test this hypothesis, and a potential therapeutic approach, we investigated whether inhibition of the striatal-specific cyclic nucleotide phosphodiesterase PDE10A would alleviate neurological deficits and brain pathology in a highly utilized model system, the R6/2 mouse.R6/2 mice were treated with the highly selective PDE10A inhibitor TP-10 from 4 weeks of age until euthanasia. TP-10 treatment significantly reduced and delayed the development of the hind paw clasping response during tail suspension, deficits in rotarod performance, and decrease in locomotor activity in an open field. Treatment prolonged time to loss of righting reflex. These effects of PDE10A inhibition on neurological function were reflected in a significant amelioration in brain pathology, including reduction in striatal and cortical cell loss, the formation of striatal neuronal intranuclear inclusions, and the degree of microglial activation that occurs in response to the mutant huntingtin-induced brain damage. Striatal and cortical levels of phosphorylated CREB and BDNF were significantly elevated.Our findings provide experimental support for targeting the cAMP and CREB signaling pathways and more broadly transcriptional dysregulation as a therapeutic approach to Huntington's disease. It is noteworthy that PDE10A inhibition in the R6/2 mice reduces striatal pathology, consistent with the localization of the enzyme in medium spiny neurons, and also cortical pathology and the formation of neuronal nuclear inclusions. These latter findings suggest that striatal pathology may be a primary driver of these secondary pathological events. More

Neurotensin receptor binding levels in basal ganglia are not altered in Huntington's chorea or schizophrenia

International Nuclear Information System (INIS)

Palacios, J.M.; Chinaglia, G.; Rigo, M.; Ulrich, J.; Probst, A.

1991-01-01

Autoradiographic techniques were used to examine the distribution and levels of neurotensin receptor binding sites in the basal ganglia and related regions of the human brain. Monoiodo ( 125 I-Tyr3)neurotensin was used as a ligand. High amounts of neurotensin receptor binding sites were found in the substantia nigra pars compacta. Lower but significant quantities of neurotensin receptor binding sites characterized the caudate, putamen, and nucleus accumbens, while very low quantities were seen in both medial and lateral segments of the globus pallidus. In Huntington's chorea, the levels of neurotensin receptor binding sites were found to be comparable to those of control cases. Only slight but not statistically significant decreases in amounts of receptor binding sites were detected in the dorsal part of the head and in the body of caudate nucleus. No alterations in the levels of neurotensin receptor binding sites were observed in the substantia nigra pars compacta and reticulata. These results suggest that a large proportion of neurotensin receptor binding sites in the basal ganglia are located on intrinsic neurons and on extrinsic afferent fibers that do not degenerate in Huntington's disease

A Hidden History: A Survey of the Teaching of Eugenics in Health, Social Care and Pedagogical Education and Training Courses in Europe

Science.gov (United States)

Atherton, H. L.; Steels, S. L.

2016-01-01

Knowledge and understanding of how eugenics has historically affected the lives of people with intellectual disabilities is vital if professionals are to mount an effective defence against its contemporary influences. An online survey of European providers of health, social care and pedagogical education and training courses was undertaken to find…

EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease

OpenAIRE

Losekoot, Monique; van Belzen, Martine J; Seneca, Sara; Bauer, Peter; Stenhouse, Susan A R; Barton, David E

2012-01-01

Huntington disease (HD) is caused by the expansion of an unstable polymorphic trinucleotide (CAG)n repeat in exon 1 of the HTT gene, which translates into an extended polyglutamine tract in the protein. Laboratory diagnosis of HD involves estimation of the number of CAG repeats. Molecular genetic testing for HD is offered in a wide range of laboratories both within and outside the European community. In order to measure the quality and raise the standard of molecular genetic testing in these ...

Siberis ellujäämisest saab ETV ekraanil dramaatiline telesari / Kärt Anvelt ; kommenteerinud Eugen Tamberg ja Urmas Voolpriit

Index Scriptorium Estoniae

Anvelt, Kärt, 1973-

2010-01-01

2012. aastal jõuab ekraanile 12-osaline ajalooline telesari tööpealkirjaga "Siber", mis tähistab 70 aasta möödumist eestlaste esimesest küüditamisest 14. juunil 1941. Sarja lavastaja Merle Karusoo, stsenaristid Merle Karusoo ja Katrin Saukas. Võtterühma peagi algavast sõidust Siberisse Tomski oblastisse, reisist valmib dokumentaalfilm. Kommenteerivad kunstnik Eugen Tamberg ja helirežissöör Urmas Voolpriit

MUSLIM-CHRISTIAN DEBATES IN THEEARLY ‘ABBASID PERIOD: The Cases of Timothy I and Theodore Abu Qurra

Directory of Open Access Journals (Sweden)

Hans Abdiel Harmakaputra

2014-12-01

Full Text Available The era of the early ‘Abbasid caliphate made an important mark on the history of the world by the event of the Greek translation movement, i.e. the translation of Greek thoughts into the Arabic language. In addition to this development, the era also saw the flourishing of interreligious discourse, in both polemical literatures and religious debates, especially between Christians and Muslims. This article tries to describe how those two historical remarks are correlated under the light of other factors such as politics and religious identity. The earliest debate was happened between caliph al-Mahdi (r. 755-785 CE and a Nestorian Catholicos, Timothy I (728- 823 CE, as the first sample of religious discourses. The second one is the debate between the caliph al-Ma’mun (r. 813-833CE, who arranged many religious debates in his court, with Theodore Abu Qurra (755 – 830 CE, Bishop of Harran. By knowing the motives of the two caliphs who sponsored those events, readers would catch a better picture of the historical contexts of that time.

Ernst Rüdin's Unpublished 1922-1925 Study "Inheritance of Manic-Depressive Insanity": Genetic Research Findings Subordinated to Eugenic Ideology.

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Kösters, Gundula; Steinberg, Holger; Kirkby, Kenneth Clifford; Himmerich, Hubertus

2015-11-01

In the early 20th century, there were few therapeutic options for mental illness and asylum numbers were rising. This pessimistic outlook favoured the rise of the eugenics movement. Heredity was assumed to be the principal cause of mental illness. Politicians, scientists and clinicians in North America and Europe called for compulsory sterilisation of the mentally ill. Psychiatric genetic research aimed to prove a Mendelian mode of inheritance as a scientific justification for these measures. Ernst Rüdin's seminal 1916 epidemiological study on inheritance of dementia praecox featured large, systematically ascertained samples and statistical analyses. Rüdin's 1922-1925 study on the inheritance of "manic-depressive insanity" was completed in manuscript form, but never published. It failed to prove a pattern of Mendelian inheritance, counter to the tenets of eugenics of which Rüdin was a prominent proponent. It appears he withheld the study from publication, unable to reconcile this contradiction, thus subordinating his carefully derived scientific findings to his ideological preoccupations. Instead, Rüdin continued to promote prevention of assumed hereditary mental illnesses by prohibition of marriage or sterilisation and was influential in the introduction by the National Socialist regime of the 1933 "Law for the Prevention of Hereditarily Diseased Offspring" (Gesetz zur Verhütung erbkranken Nachwuchses).

Eugenia e Fundação Rockefeller no Brasil: a saúde como proposta de regeneração nacional Eugenics and the Rockefeller Foundation in Brazil: health as an instrument of national regeneration

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Elisabete Kobayashi

2009-12-01

Full Text Available Nas primeiras décadas do século XX, a Fundação Rockefeller atuou de modo decisivo na implementação de ações voltadas para a saúde pública no Brasil, especialmente naquilo denominado de movimento sanitarista. Nesse mesmo período, a eugenia brasileira era equivalente ao sanitarismo, onde defendia-se a máxima de que "sanear era eugenizar". Vários trabalhos discutem o movimento sanitário, a questão da saúde pública no Brasil, a Fundação Rockefeller, a eugenia e seus ativistas. Entretanto, é escassa a discussão a respeito da Rockefeller e o movimento eugenista brasileiro. É necessário alertar que embora nos deparemos com questões ligadas à raça, teorias sobre genética ou evolução, este trabalho não tem como objetivo analisar tais assuntos com profundidade. O que buscamos construir foi o cenário no qual a eugenia de maneira geral, e a brasileira, especificamente, se desenrolou trazendo à tona as posturas de alguns eugenistas brasileiros.In the first decades of the twentieth century, the work of the Rockefeller Foundation was decisive for the implementation of public health initiatives in Brazil, especially in the so-called public health movement. At that time, Brazilian eugenics was the same as public health, as expressed in the maxim "to sanitize is to eugenize". There are several studies discussing the public health movement, the issue of public health in Brazil, the Rockefeller Foundation, eugenics and its supporters. However, there is little discussion on the relationship between the Rockefeller Foundation and the Brazilian eugenics movement. It is worth to mention that although there are issues related to race, and theories on genetics and evolution, this work does not intend to examine these issues in depth. The aim was to recreate the scenario in which eugenics in general, and particularly in the Brazilian case, was developed, exposing the positions of some of the Brazilian eugenicists.

"Our power to remodel civilization": the development of eugenic feminism in Alberta, 1909-1921.

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Gibbons, Sheila

2014-01-01

In addition to being a prominent political figure in equal rights legislation, Emily Murphy was a vital contributor to programs which sought to improve the human race through forced sterilization. These negative aspects of this period in feminist history tend to be described as outside of the women's sphere, representing instead the patriarchal realm of men. However, both eugenics and the first-wave feminist ambitions for equal political rights were connected through an agrarian construction of "mothers of the race." As "mothers of the race," women in Alberta were responsible for the physical and moral betterment of the nation, and were directly engaged in concepts of intelligent motherhood, healthy childhood, and an overarching moral philosophy that was politically driven.

Comprehensive behavioral testing in the R6/2 mouse model of Huntington's disease shows no benefit from CoQ10 or minocycline.

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Liliana B Menalled

2010-03-01

Full Text Available Previous studies of the effects of coenzyme Q10 and minocycline on mouse models of Huntington's disease have produced conflicting results regarding their efficacy in behavioral tests. Using our recently published best practices for husbandry and testing for mouse models of Huntington's disease, we report that neither coenzyme Q10 nor minocycline had significant beneficial effects on measures of motor function, general health (open field, rotarod, grip strength, rearing-climbing, body weight and survival in the R6/2 mouse model. The higher doses of minocycline, on the contrary, reduced survival. We were thus unable to confirm the previously reported benefits for these two drugs, and we discuss potential reasons for these discrepancies, such as the effects of husbandry and nutrition.

Time perception impairment in early-to-moderate stages of Huntington's disease is related to memory deficits.

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Righi, Stefania; Galli, Luca; Paganini, Marco; Bertini, Elisabetta; Viggiano, Maria Pia; Piacentini, Silvia

2016-01-01

Huntington's disease (HD) primarily affects striatum and prefrontal dopaminergic circuits which are fundamental neural correlates of the timekeeping mechanism. The few studies on HD mainly investigated motor timing performance in second durations. The present work explored time perception in early-to-moderate symptomatic HD patients for seconds and milliseconds with the aim to clarify which component of the scalar expectancy theory (SET) is mainly responsible for HD timing defect. Eleven HD patients were compared to 11 controls employing two separate temporal bisection tasks in second and millisecond ranges. Our results revealed the same time perception deficits for seconds and milliseconds in HD patients. Time perception impairment in early-to-moderate stages of Huntington's disease is related to memory deficits. Furthermore, both the non-systematical defect of temporal sensitivity and the main impairment of timing performance in the extreme value of the psychophysical curves suggested an HD deficit in the memory component of the SET. This result was further confirmed by the significant correlations between time perception performance and long-term memory test scores. Our findings added important preliminary data for both a deeper comprehension of HD time-keeping deficits and possible implications on neuro-rehabilitation practices.

Derivation of Huntington Disease affected Genea046 human embryonic stem cell line

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Biljana Dumevska

2016-03-01

Full Text Available The Genea046 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, carrying HTT gene CAG expansion of 45 repeats, indicative of Huntington Disease. Following ICM outgrowth on inactivated human feeders, karyotype was confirmed as 46, XX by CGH and STR analysis demonstrated a female Allele pattern. The hESC line had pluripotent cell morphology, 85% of cells expressed Nanog, 92% Oct4, 75% Tra1–60 and 99% SSEA4 and demonstrated Alkaline Phosphatase activity. The cell line was negative for Mycoplasma and visible contamination.

Nonparametric modeling and analysis of association between Huntington's disease onset and CAG repeats.

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Ma, Yanyuan; Wang, Yuanjia

2014-04-15

Huntington's disease (HD) is a neurodegenerative disorder with a dominant genetic mode of inheritance caused by an expansion of CAG repeats on chromosome 4. Typically, a longer sequence of CAG repeat length is associated with increased risk of experiencing earlier onset of HD. Previous studies of the association between HD onset age and CAG length have favored a logistic model, where the CAG repeat length enters the mean and variance components of the logistic model in a complex exponential-linear form. To relax the parametric assumption of the exponential-linear association to the true HD onset distribution, we propose to leave both mean and variance functions of the CAG repeat length unspecified and perform semiparametric estimation in this context through a local kernel and backfitting procedure. Motivated by including family history of HD information available in the family members of participants in the Cooperative Huntington's Observational Research Trial (COHORT), we develop the methodology in the context of mixture data, where some subjects have a positive probability of being risk free. We also allow censoring on the age at onset of disease and accommodate covariates other than the CAG length. We study the theoretical properties of the proposed estimator and derive its asymptotic distribution. Finally, we apply the proposed methods to the COHORT data to estimate the HD onset distribution using a group of study participants and the disease family history information available on their family members. Copyright © 2013 John Wiley & Sons, Ltd.

The story of George Huntington and his disease

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Kalyan B Bhattacharyya

2016-01-01

Full Text Available George Huntington described some families with choreiform movements in 1872 in the United States of America and since then many such families have been described in other parts of the world and works on the genetics of the disease have brought new vistas in the understanding of the disease. In 1958, Americo Negrette, a young Venezuelan physician observed similar subjects in the vicinity of Lake Maracaibo which was presented by his co-worker, Ramon Avilla Giron at New York in 1972 when United States of America had been commemorating the centenary year of Huntington′s disease. Nancy Wexler, a psychoanalyst, whose mother had been suffering from the disease attended the meeting and organized a research team to Venezuela and they systematically studied more than 18,000 individuals in order to work out a common pedigree. They identified the genetic locus of the disease in the short arm of chromosome 4 and observed that it was a trinucleotide repeat disorder.

Obituary: Timothy Hawarden (1943-2009)

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Robson, Ian

2011-12-01

British astronomy lost one of its most respected and liked members with the sudden death of Dr Timothy (Tim) Hawarden. Hawarden was one of those people who changed his wavelength and discipline as the emerging challenges of astronomy dictated, and was successful in all of his ventures. He experienced a huge breadth of achievement; moving from photographic plates, through electronic detectors to infrared astronomy from the ground and subsequently from space. He was an acknowledged leader in his fields around the world and, in addition to his professional accomplishments, he was a keen practitioner of culinary technique. His bouillabaisse was legendary. In his later years he was a source of inspiration for young children in his outreach work. Tim Hawarden began his career as an optical astronomer in South Africa. He graduated from the University of Natal, Pietermaritzburg in 1966 with a BSc in Physics and Applied Mathematics, followed by an MSc in Astronomy from the University of Cape Town in 1970 and a PhD in 1975. Hawarden's early years were formed by learning the precise art of photometry from the legendary Cousins, and this focus on precision has stood him in good stead throughout his career. He then moved Australia in 1975, where he spent three years as Deputy Astronomer-in-Charge of the UK Schmidt Telescope, from where he moved to the Royal Observatory Edinburgh, where he remained for the rest of his career. Hawarden rapidly moved into the newly emerging field of infrared astronomy. His research moved from stars and stellar clusters to barred spiral galaxies and he was keen to employ the new tools coming on-line to pursue this work. The United Kingdom Infrared Telescope (KIRT) was the world's premier facility and Tim Hawarden became the Head of the unit at the ROE in 1981, a post he held for the next six years, overseeing a range of developments that have stood the test of time and have provided the platform on which UKIRT has retained its world-class standing

Making a measurable difference in advanced Huntington disease care.

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Moskowitz, Carol Brown; Rao, Ashwini K

2017-01-01

Neurologists' role in the care of people with advanced Huntington disease (HD) (total functional capacity speech and language pathology), behavioral and psychiatric professionals for problem-solving strategies, which must be reviewed with direct care staff before implementation; (3) encourage and support qualitative and quantitative interdisciplinary research studies, and randomized controlled studies of nonpharmacologic interventions; and (4) assist in the development of meaningful measures to further document what works to provide a good quality of life for the patient and family and a comfortable thoughtful approach to a good death. Collaborative models of care depend on: (1) clear communication; (2) ongoing education and support programs; with (3) pharmacologic and rehabilitation interventions, always in the context of respect for the person with HD, a preservation of the individuals' dignity, autonomy, and individual preferences. Copyright © 2017 Elsevier B.V. All rights reserved.

Brain atrophy in Huntington's disease: A CT-scan study

International Nuclear Information System (INIS)

Starkstein, S.E.; Folstein, S.E.; Brandt, J.; McDonnell, A.; Folstein, M.

1989-01-01

CT-scan measurements of cortical and subcortical atrophy were carried out in 34 patients with Huntington's disease (HD). While a significant correlation was observed between parameters of subcortical atrophy (bicaudate ratio, bifrontal ratio and third ventricular ratio) and duration of the disease, there was no significant correlation between these parameters and age. On the other hand, measurements of cortical atrophy (frontal fissure ratio and cortical sulci ratio) correlated significantly with age but not with duration of the disease. When a group of 24 HD patients were compared on CT-scan measurements with a group of 24 age-matched normal controls, significant differences were obtained for all the variables examined, but the bicaudate ratio showed the highest sensitivity and specificity. Even mildly affected patients, with duration of motor symptoms less than 3 years had higher bicaudate ratios than age-matched controls. (orig.)

Glucose transportation in the brain and its impairment in Huntington disease: one more shade of the energetic metabolism failure?

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Morea, Veronica; Bidollari, Eris; Colotti, Gianni; Fiorillo, Annarita; Rosati, Jessica; De Filippis, Lidia; Squitieri, Ferdinando; Ilari, Andrea

2017-07-01

Huntington's disease (HD) or Huntington's chorea is the most common inherited, dominantly transmitted, neurodegenerative disorder. It is caused by increased CAG repeats number in the gene coding for huntingtin (Htt) and characterized by motor, behaviour and psychiatric symptoms, ultimately leading to death. HD patients also exhibit alterations in glucose and energetic metabolism, which result in pronounced weight loss despite sustained calorie intake. Glucose metabolism decreases in the striatum of all the subjects with mutated Htt, but affects symptom presentation only when it drops below a specific threshold. Recent evidence points at defects in glucose uptake by the brain, and especially by neurons, as a relevant component of central glucose hypometabolism in HD patients. Here we review the main features of glucose metabolism and transport in the brain in physiological conditions and how these processes are impaired in HD, and discuss the potential ability of strategies aimed at increasing intracellular energy levels to counteract neurological and motor degeneration in HD patients.

Tauroursodeoxycholic acid, a bile acid, is neuroprotective in a transgenic animal model of Huntington's disease

OpenAIRE

Keene, C. Dirk; Rodrigues, Cecilia M. P.; Eich, Tacjana; Chhabra, Manik S.; Steer, Clifford J.; Low, Walter C.

2002-01-01

Huntington's disease (HD) is an untreatable neurological disorder caused by selective and progressive degeneration of the caudate nucleus and putamen of the basal ganglia. Although the etiology of HD pathology is not fully understood, the observed loss of neuronal cells is thought to occur primarily through apoptosis. Furthermore, there is evidence in HD that cell death is mediated through mitochondrial pathways, and mitochondrial deficits are commonly associated with HD. We have previously r...

Human glia can both induce and rescue aspects of disease phenotype in Huntington disease

DEFF Research Database (Denmark)

Benraiss, Abdellatif; Wang, Su; Herrlinger, Stephanie

2016-01-01

The causal contribution of glial pathology to Huntington disease (HD) has not been heavily explored. To define the contribution of glia to HD, we established human HD glial chimeras by neonatally engrafting immunodeficient mice with mutant huntingtin (mHTT)-expressing human glial progenitor cells...... chimeras are hyperexcitable. Conversely, normal glia can ameliorate disease phenotype in transgenic HD mice, as striatal transplantation of normal glia rescues aspects of electrophysiological and behavioural phenotype, restores interstitial potassium homeostasis, slows disease progression and extends...

Safety of sublingual immunotherapy Timothy grass tablet in subjects with allergic rhinitis with or without conjunctivitis and history of asthma

DEFF Research Database (Denmark)

Maloney, J; Durham, S; Skoner, D

2015-01-01

BACKGROUND: Patients with asthma may be more susceptible to adverse events (AEs) with sublingual immunotherapy tablet (SLIT-tablet) treatment, such as severe systemic reactions and asthma-related events. Using data from eight trials of grass SLIT-tablet in subjects with allergic rhinitis with....../without conjunctivitis (AR/C), AE frequencies were determined in adults and children with and without reported asthma. METHODS: Data from randomized, double-blind, placebo-controlled trials of Timothy grass SLIT-tablet MK-7243 (2800 BAU/75 000 SQ-T, Merck/ALK-Abelló) were pooled for post hoc analyses. Subjects...... with asthma treated with grass SLIT-tablet versus subjects without asthma in or outside of pollen season. There were 6/120 asthma-related TRAEs assessed as severe with grass SLIT-tablet and 2/60 with placebo, without a consistent trend among subjects with and without asthma (5 and 3 events, respectively...

Suicidal ideation and suicidal behavior according to the C-SSRS in a European cohort of Huntington's disease gene expansion carriers.

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van Duijn, Erik; Vrijmoeth, Eslie M; Giltay, Erik J; Bernhard Landwehrmeyer, G

2018-03-01

Huntington's disease (HD) gene expansion carriers are at an increased risk of suicide, but so far, no studies have investigated the full spectrum of suicidality, including suicidal ideation, suicidal behavior and self-injurious behavior. We included 1451 HD gene expansion carriers (age 48.4 years (SD 14.0), 54.8% female) of the REGISTRY study of the European Huntington's Disease Network. Lifetime suicidal ideation and suicidal behavior were assessed with the Columbia-Suicidal Severity Rating Scale. Motor symptoms and disease stage were assessed using subscales of the Unified Huntington's Disease Rating Scale, and depressed mood and irritability were assessed by the Problem Behaviors Assessment. Lifetime passive suicidal ideation was reported by 21.2%. Participants in stage II showed the highest prevalence rate of suicidal ideation, while participants in stage IV/V showed the highest prevalence of suicidal behavior. A lifetime suicide attempt was reported by 6.5% of the HD gene expansion carriers. In multivariate regression analyses, both suicidal ideation and suicidal behavior were associated with a depressed mood, and to a lesser extend to irritability. Results may have been affected by denial or recall bias and no conclusions can be made about the temporal and causal relationships with depressed mood and irritability because of the cross-sectional analyses. Given the high prevalence of suicidal ideation and suicidal behavior in all stages of HD, it is important to screen HD gene expansion carriers for suicidal ideation and suicidal behavior on a regular basis in clinical practice. Copyright © 2017 Elsevier B.V. All rights reserved.

Neuropathological Comparison of Adult Onset and Juvenile Huntington's Disease with Cerebellar Atrophy: A Report of a Father and Son.

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Latimer, Caitlin S; Flanagan, Margaret E; Cimino, Patrick J; Jayadev, Suman; Davis, Marie; Hoffer, Zachary S; Montine, Thomas J; Gonzalez-Cuyar, Luis F; Bird, Thomas D; Keene, C Dirk

2017-01-01

Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by a trinucleotide (CAG) repeat expansion in huntingtin (HTT) on chromosome 4. Anticipation can cause longer repeat expansions in children of HD patients. Juvenile Huntington's disease (JHD), defined as HD arising before age 20, accounts for 5-10% of HD cases, with cases arising in the first decade accounting for approximately 1%. Clinically, JHD differs from the predominately choreiform adult onset Huntington's disease (AOHD) with variable presentations, including symptoms such as myoclonus, seizures, Parkinsonism, and cognitive decline. The neuropathologic changes of AOHD are well characterized, but there are fewer reports that describe the neuropathology of JHD. Here we report a case of a six-year-old boy with paternally-inherited JHD caused by 169 CAG trinucleotide repeats who presented at age four with developmental delay, dysarthria, and seizures before dying at age 6. The boy's clinical presentation and neuropathological findings are directly compared to those of his father, who presented with AOHD and 54 repeats. A full autopsy was performed for the JHD case and a brain-only autopsy was performed for the AOHD case. Histochemically- and immunohistochemically-stained slides were prepared from formalin-fixed, paraffin-embedded tissue sections. Both cases had neuropathology corresponding to Vonsattel grade 3. The boy also had cerebellar atrophy with huntingtin-positive inclusions in the cerebellum, findings not present in the father. Autopsies of father and son provide a unique opportunity to compare and contrast the neuropathologic findings of juvenile and adult onset HD while also providing the first immunohistochemical evidence of cerebellar involvement in JHD. Additionally this is the first known report to include findings from peripheral tissue in a case of JHD.

Orphan drugs in development for Huntington's disease: challenges and progress

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Burgunder JM

2015-02-01

advanced strategies to develop novel treatments in Huntington's disease are examined. Keywords: Huntington's disease, symptomatic treatment, disease-modifying therapy

Border Gothic - history, violence and the border in the writings of Eugene McCabe

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Éamonn Ó Ciardha

2016-12-01

Full Text Available As well as producing a rich body of novels, novellas, short-stories and plays spanning throughout seventy years of the century of partition, Eugene McCabe charts the broad trajectory of Irish history and politics from the Elizabethan Conquest and Ulster Plantation of the 16th and 17th centuries to the recent 'Troubles' which spanned the thirty years between the beginnings of the Civil Rights Movement (1968 and the signing of the Belfast/Good Friday Agreement (1998. They positively seethe with gruesome assassinations, indiscriminate bombings and deliberate shootings, while resonating with a veritable cacophony of deep-seeded ethnic rivalries and genocidal, religious hatreds, which are interlaced with poverty, social deprivation and dis-function, migration and emigration.

A Case of Juvenile Huntington Disease in a 6-Year-Old Boy

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Jun-Sang Sunwoo

2010-10-01

Full Text Available Huntington disease is a neurodegenerative disorder distinguished by the triad of dominant inheritance, choreoathetosis and dementia, usually with onset in the fourth and fifth decades. It is caused by an unstable cytosine-adenine-guanine (CAG trinucleotide repeat expansion in the gene IT15 in locus 4p16.3. Juvenile HD that constitutes about 3% to 10% of all patients is clinically different from adult-onset form and characterized by a larger number of CAG repeats typically exceeding 60. We report a case of a 6-year-old boy with myoclonic seizure and 140 CAG repeats confirmed by molecular genetic analysis.

Eugene O’Neill and the Celebration of The Other

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Sayyed Rahim Moosavinia

2013-03-01

Full Text Available The present paper examines Eugene O’Neill’s three selected plays, Anna Christie, The Iceman Cometh and The Hairy Ape, in the light of cultural studies by focusing on finding the notion of the "other", here women, blacks and the working class. The chosen groups here are among the ones that have been "otherized" by the white, male, bourgeois society. In this study, through the elements of cultural studies, it is shown that the mentioned groups are treated as Others because of their gender, class or race which are considered as inferior ones by the Power. We are going to find out that thinking in terms of binary oppositions is not an acceptable point of view in cultural studies. Therefore, the boundary between the superiority of the Power and inferiority of the Other is broken in this approach. O’Neill’s view point in the selected plays is in line with the core ideas in cultural studies. His wide point of view toward the events of his country and his pluralistic and skeptical outlook does not let any simple categorization or generalization takes place in his works. He criticizes the dominant discourses of the society and makes room for other voices to be heard.

A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease

DEFF Research Database (Denmark)

Bečanović, Kristina; Nørremølle, Anne; Neal, Scott J

2015-01-01

Cis-regulatory variants that alter gene expression can modify disease expressivity, but none have previously been identified in Huntington disease (HD). Here we provide in vivo evidence in HD patients that cis-regulatory variants in the HTT promoter are bidirectional modifiers of HD age of onset....

Assessment of motor function, sensory motor gating and recognition memory in a novel BACHD transgenic rat model for Huntington disease

NARCIS (Netherlands)

Abada, Yah-se K.; Nguyen, Huu Phuc; Schreiber, Rudy; Ellenbroek, Bart

2013-01-01

Rationale: Huntington disease (HD) is frequently first diagnosed by the appearance of motor symptoms; the diagnosis is subsequently confirmed by the presence of expanded CAG repeats (> 35) in the HUNTINGTIN (HTT) gene. A BACHD rat model for HD carrying the human full length mutated HTT with 97

Timothy Leary, Richard Alpert (Ram Dass) and the changing definition of psilocybin.

Science.gov (United States)

Wark, Colin; Galliher, John F

2010-05-01

This research focuses on the events leading to the 1968 U.S. federal prohibition of psilocybin. It is a study of duelling moral entrepreneurs-Timothy Leary and Richard Alpert vs. the Harvard University Administration. The goal is to show how the primary active compound in an ostensibly harmless fungus (the psilocybin mushroom) became controversial in less than a decade. We used books, newspapers, magazine articles and previously unpublished materials (including documents from the Harvard Archives) to analyze Leary and Alpert's lives and careers through the early 1970s. The prohibition of psilocybin in the U.S. was largely a product of Leary and Alpert's involvement in the "Harvard drug scandal" and their transformation from Harvard professors to countercultural icons. They tested the substance on a variety of human subjects and in doing so piqued the interest of Harvard undergraduates while drawing condemnation from other faculty and Harvard administrators. This case is theoretically interesting because unlike most illegal drugs, psilocybin was never linked to a threatening minority group, but to some of the nation's most privileged youth. The Harvard administrators were not really moral entrepreneurs but Leary and Alpert clearly were. Although they were far from being prohibitionists, they were self-righteous crusaders on different but equally holy missions for the good of young and minority Americans. Ironically, due to their successes the possession of psilocybin was criminalized under United States federal law in 1968 (Pub. L. No. 90-639, Stat. 1361 1968 and Boire, 2002). This case study demonstrates that crusaders can be successful in changing culture even when laws are passed in futile attempts to control their behaviour, just as Leary predicted. Copyright 2009 Elsevier B.V. All rights reserved.

A Digital Humanities Approach to the History of Science Eugenics Revisited in Hidden Debates by Means of Semantic Text Mining

OpenAIRE

Huijnen, Pim; Laan, Fons; de Rijke, Maarten; Pieters, Toine

2014-01-01

Comparative historical research on the the intensity, diversity and fluidity of public discourses has been severely hampered by the extraordinary task of manually gathering and processing large sets of opinionated data in news media in different countries. At most 50,000 documents have been systematically studied in a single comparative historical project in the subject area of heredity and eugenics. Digital techniques, like the text mining tools WAHSP and BILAND we have developed in two succ...

[Neurocosmetics, transhumanism and eliminative materialism: toward new ways of eugenics].

Science.gov (United States)

Echarte Alonso, Luis E

2012-01-01

In this paper I present similarities and connections between Transhumanism and Eliminative Materialism. Concretely, I study the arguments with which in both positions it is defended a merely instrumental idea of human body and, because of that, one infinitely mouldable. First, I show the social relevance of this idea and its projections in phenomena as medicalization of human condition and, especially, cosmetic psychopharmacology. Besides, I denounce that such influences are caused by illegitimate transference of authority between philosophical and scientific forums. Second, according to my analysis, these new postmodern fashions of chemical sentimentalism (related with radical changes on personal identity and human nature) drive to new eugenic forms what I name autoeugenics. Finally, I call attention to the important role of utopian speeches about the science of tomorrow and super-human civilization in a Carpe Diem society. In my conclusions, I claim that historical reasoning or warnings about what is coming are not efficient strategies to control neither new psychopharmacological habits nor passivity generated by them. Returning social confidence in the power of reason to achieve reality (and other human beings) is, in my opinion, the best way to rehabilitate a more and more devalued human action.

Eugene F. Fama: Nobel prize for 2013: Capital market efficiency

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Pantelić Svetlana

2015-01-01

Full Text Available In 2013 the Nobel Prize in Economic Sciences was awarded to the American economists, Eugene Fama, Lars Peter Hansen and Robert Shiller. The monetarists, Fama and Hansen, from the University of Chicago, and the Neo- Keynesian, Shiller, from the Yale University, according to the Swedish Royal Academy, won this prestigious prize for their research providing mathematical and economic models to determine (irregularities in the stock value trends at the stock exchanges. With his colleagues, in the 1960s Fama established that, in the short term, it is extremely difficult to forecast stock prices, given that new information gets embedded in the prices rather quickly. Shiller, however, determined that, although it is almost impossible to predict the stock prices for a period of few days, this is not true for a period of several years. He discovered that the stock prices fluctuate much more substantially than corporation dividents, and that the relationship between prices and dividends tends to decline when high, and to grow when low. This pattern does not apply only to stocks, but also to bonds and other forms of capital.

Potent and selective antisense oligonucleotides targeting single-nucleotide polymorphisms in the Huntington disease gene / allele-specific silencing of mutant huntingtin

DEFF Research Database (Denmark)

Carroll, Jeffrey B; Warby, Simon C; Southwell, Amber L

2011-01-01

Huntington disease (HD) is an autosomal dominant neurodegenerative disorder caused by CAG-expansion in the huntingtin gene (HTT) that results in a toxic gain of function in the mutant huntingtin protein (mHTT). Reducing the expression of mHTT is therefore an attractive therapy for HD. However, wild...

Sertraline and venlafaxine improves motor performance and neurobehavioral deficit in quinolinic acid induced Huntington's like symptoms in rats: Possible neurotransmitters modulation.

Science.gov (United States)

Gill, Jaskamal Singh; Jamwal, Sumit; Kumar, Puneet; Deshmukh, Rahul

2017-04-01

Huntington Disease is autosomal, fatal and progressive neurodegenerative disorder for which clinically available drugs offer only symptomatic relief. Emerging strides have indicated that antidepressants improve motor performance, restore neurotransmitters level, ameliorates striatal atrophy, increases BDNF level and may enhance neurogenesis. Therefore, we investigated sertraline and venlafaxine, clinically available drugs for depression with numerous neuroprotective properties, for their beneficial effects, if any, in quinolinic acid induced Huntington's like symptoms in rats. Rats were administered quinolinic acid (QA) (200 nmol/2μl saline) intrastriatal bilaterally on 0day. Sertraline and venlafaxine (10 and 20mg/kg, po) each were administered for 21days once a day. Motor performance was assessed using rotarod test, grip strength test, narrow beam walk test on weekly basis. On day 22, animals were sacrificed and rat striatum was isolated for biochemical (LPO, GSH and Nitrite), neuroinflammation (TNF-α, IL-1β and IL-6) and neurochemical analysis (GABA, glutamate, norepinephrine, dopamine, serotonin, DOPAC, HVA and 5-HIAA). QA treatment significantly altered body weight, motor performance, oxidative defense (increased LPO, nitrite and decreased GSH), pro-inflammatory cytokines levels (TNF-α, IL-6 and IL-1β), neurochemical level (GABA, glutamate, nor-epinephrine, dopamine, serotonin, HVA, DOPAC, 5-HIAA). Sertraline and venlafaxine at selected doses significantly attenuated QA induced alterations in striatum. The present study suggests that modulation of monoamines level, normalization of GABA and glutamatergic signaling, anti-oxidant and anti-inflammatory properties could underlie the neuroprotective effect of sertraline and venlafaxine in QA induced Huntington's like symptoms. Copyright © 2016. Published by Elsevier Urban & Partner Sp. z o.o.

Therapeutic strategies for circadian rhythm and sleep disturbances in Huntington disease.

Science.gov (United States)

van Wamelen, Daniel J; Roos, Raymund Ac; Aziz, Nasir A

2015-12-01

Aside from the well-known motor, cognitive and psychiatric signs and symptoms, Huntington disease (HD) is also frequently complicated by circadian rhythm and sleep disturbances. Despite the observation that these disturbances often precede motor onset and have a high prevalence, no studies are available in HD patients which assess potential treatments. In this review, we will briefly outline the nature of circadian rhythm and sleep disturbances in HD and subsequently focus on potential treatments based on findings in other neurodegenerative diseases with similarities to HD, such as Parkinson and Alzheimer disease. The most promising treatment options to date for circadian rhythm and sleep disruption in HD include melatonin (agonists) and bright light therapy, although further corroboration in clinical trials is warranted.

Neuroscience in Nazi Europe part I: eugenics, human experimentation, and mass murder.

Science.gov (United States)

Zeidman, Lawrence A

2011-09-01

The Nazi regime in Germany from 1933 to 1945 waged a veritable war throughout Europe to eliminate neurologic disease from the gene pool. Fueled by eugenic policies on racial hygiene, the Nazis first undertook a sterilization campaign against "mental defectives," which included neurologic patients with epilepsy and other disorders, as well as psychiatric patients. From 1939-41 the Nazis instead resorted to "euthanasia" of many of the same patients. Some neuroscientists were collaborators in this program, using patients for research, or using extracted brains following their murder. Other reviews have focused on Hallervorden, Spatz, Schaltenbrand, Scherer, and Gross, but in this review the focus is on neuroscientists not well described in the neurology literature, including Scholz, Ostertag, Schneider, Nachtsheim, and von Weizsäcker. Only by understanding the actions of neuroscientists during this dark period can we learn from the slippery slope down which they traveled, and prevent history from repeating itself.

Controlled clinical trial of cannabidiol in Huntington's disease.

Science.gov (United States)

Consroe, P; Laguna, J; Allender, J; Snider, S; Stern, L; Sandyk, R; Kennedy, K; Schram, K

1991-11-01

Based on encouraging preliminary findings, cannabidiol (CBD), a major nonpsychotropic constituent of Cannabis, was evaluated for symptomatic efficacy and safety in 15 neuroleptic-free patients with Huntington's Disease (HD). The effects of oral CBD (10 mg/kg/day for 6 weeks) and placebo (sesame oil for 6 weeks) were ascertained weekly under a double-blind, randomized cross-over design. A comparison of the effects of CBD and placebo on chorea severity and other therapeutic outcome variables, and on a Cannabis side effect inventory, clinical lab tests and other safety outcome variables, indicated no significant (p greater than 0.05) or clinically important differences. Correspondingly, plasma levels of CBD were assayed by GC/MS, and the weekly levels (mean range of 5.9 to 11.2 ng/ml) did not differ significantly over the 6 weeks of CBD administration. In summary, CBD, at an average daily dose of about 700 mg/day for 6 weeks, was neither symptomatically effective nor toxic, relative to placebo, in neuroleptic-free patients with HD.

Swallowing endoscopy findings in Huntington's disease: a case report.

Science.gov (United States)

Alves, Thaís Coelho; Cola, Paula Cristina; Santos, Rarissa Rúbia Dallaqua Dos; Motonaga, Suely Mayumi; Silva, Roberta Gonçalves da

2016-01-01

Huntington's disease (HD) is a degenerative genetic disorder with autosomal-dominant transmission. The triad of symptoms of this disease consists of psychiatric disorders, jerky movements, and dementia. Oropharyngeal dysphagia, which is more evident with disease progression, is also present. Few studies have addressed the swallowing characteristics using objective analysis in this population. The purpose of this research was to describe the swallowing endoscopic findings of the pharyngeal phase in HD. This is a cross-sectional study addressing a clinical case which included two individuals of the same family, male, 32 and 63 years old, designated as individual A and individual B, with progression of the disease for five and 13 years, respectively. Consistent liquid, nectar, and puree were offered during the evaluation. There was presence of posterior oral spillage in liquid and nectar, small amount of pharyngeal residues, and no laryngeal penetration or aspiration in the individuals with HD in this study.

Altered selenium status in Huntington's disease: neuroprotection by selenite in the N171-82Q mouse model.

Science.gov (United States)

Lu, Zhen; Marks, Eileen; Chen, Jianfang; Moline, Jenna; Barrows, Lorraine; Raisbeck, Merl; Volitakis, Irene; Cherny, Robert A; Chopra, Vanita; Bush, Ashley I; Hersch, Steven; Fox, Jonathan H

2014-11-01

Disruption of redox homeostasis is a prominent feature in the pathogenesis of Huntington's disease (HD). Selenium an essential element nutrient that modulates redox pathways and has been reported to provide protection against both acute neurotoxicity (e.g. methamphetamine) and chronic neurodegeneration (e.g. tauopathy) in mice. The objective of our study was to investigate the effect of sodium selenite, an inorganic form of selenium, on behavioral, brain degeneration and biochemical outcomes in the N171-82Q Huntington's disease mouse model. HD mice, which were supplemented with sodium selenite from 6 to 14 weeks of age, demonstrated increased motor endurance, decreased loss of brain weight, decreased mutant huntingtin aggregate burden and decreased brain oxidized glutathione levels. Biochemical studies revealed that selenite treatment reverted HD-associated changes in liver selenium and plasma glutathione in N171-82Q mice and had effects on brain selenoprotein transcript expression. Further, we found decreased brain selenium content in human autopsy brain. Taken together, we demonstrate a decreased selenium phenotype in human and mouse HD and additionally show some protective effects of selenite in N171-82Q HD mice. Modification of selenium metabolism results in beneficial effects in mouse HD and thus may represent a therapeutic strategy. Copyright © 2014 Elsevier Inc. All rights reserved.

The role of the amygdala during emotional processing in Huntington's disease: from pre-manifest to late stage disease.

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Mason, Sarah L; Zhang, Jiaxiang; Begeti, Faye; Guzman, Natalie Valle; Lazar, Alpar S; Rowe, James B; Barker, Roger A; Hampshire, Adam

2015-04-01

Deficits in emotional processing can be detected in the pre-manifest stage of Huntington's disease and negative emotion recognition has been identified as a predictor of clinical diagnosis. The underlying neuropathological correlates of such deficits are typically established using correlative structural MRI studies. This approach does not take into consideration the impact of disruption to the complex interactions between multiple brain circuits on emotional processing. Therefore, exploration of the neural substrates of emotional processing in pre-manifest HD using fMRI connectivity analysis may be a useful way of evaluating the way brain regions interrelate in the period prior to diagnosis. We investigated the impact of predicted time to disease onset on brain activation when participants were exposed to pictures of faces with angry and neutral expressions, in 20 pre-manifest HD gene carriers and 23 healthy controls. On the basis of the results of this initial study went on to look at amygdala dependent cognitive performance in 79 Huntington's disease patients from a cross-section of disease stages (pre-manifest to late disease) and 26 healthy controls, using a validated theory of mind task: "the Reading the Mind in the Eyes Test" which has been previously been shown to be amygdala dependent. Psychophysiological interaction analysis identified reduced connectivity between the left amygdala and right fusiform facial area in pre-manifest HD gene carriers compared to controls when viewing angry compared to neutral faces. Change in PPI connectivity scores correlated with predicted time to disease onset (r=0.45, pneural networks underlying social cognition and emotional processing can be detected prior to clinical diagnosis in Huntington's disease. Connectivity between the amygdala and other brain regions is impacted by the disease process in pre-manifest HD and may therefore be a useful way of identifying participants who are approaching a clinical diagnosis

Mitochondrial Metabolism in a Large-Animal Model of Huntington Disease: The Hunt for Biomarkers in the Spermatozoa of Presymptomatic Minipigs

Czech Academy of Sciences Publication Activity Database

Křížová, J.; Štufková, H.; Rodinová, M.; Mačáková, Monika; Bohuslavová, Božena; Vidinská, Daniela; Klíma, Jiří; Ellederová, Zdeňka; Pavlok, Antonín; Howland, D. S.; Zeman, J.; Motlík, Jan; Hansíková, H.

2017-01-01

Roč. 17, 4-5 (2017), s. 213-226 ISSN 1660-2854 R&D Projects: GA MŠk 7F14308; GA MŠk(CZ) LO1609 Institutional support: RVO:67985904 Keywords : Huntington disease * large animal model * mutant huntingtin Subject RIV: EA - Cell Biology OBOR OECD: Cell biology Impact factor: 2.842, year: 2016

Transgenic Rat Model of Huntington's Disease: A Histopathological Study and Correlations with Neurodegenerative Process in the Brain of HD Patients.

Czech Academy of Sciences Publication Activity Database

Mazurová, Y.; Anděrová, Miroslava; Němečková, I.; Bezrouk, A.

2014-01-01

Roč. 2014, Aug 03 (2014), s. 291531 ISSN 2314-6133 R&D Projects: GA ČR(CZ) GBP304/12/G069 Grant - others:GA MŠk(CZ) Prvouk P37 Institutional support: RVO:68378041 Keywords : Huntington's Disease * neurodegenerative process in the brain Subject RIV: FH - Neurology Impact factor: 1.579, year: 2014

Comments on Timothy F. Murphy's 'the afterlife of embryonic persons: what a strange place heaven must be'.

Science.gov (United States)

Head, Ivan F

2012-12-01

In this issue, Timothy F. Murphy has written a thought-provoking and carefully nuanced article that focuses on the question of a link between a first moment of conception and an end-state beyond death in the resurrection of a human person. He is particularly concerned to probe the theological implications of asserting that the person exists from the moment of conception, and he does so by asking the reader to imagine what kind of resurrected persons would thus populate a heaven filled with, for instance, the resurrected that had in this biotic life lived but a few hours post conception, or had, say, a CV that covered no more than 5 days of cellular replication. By implication, he asks us to imagine a resurrected person whose earthly life lacked memory, consciousness or bodily form, and rather had persisted as a cluster of undifferentiated pluripotent cells. Murphy's candid and fair treatment of these topics is a helpful invitation to some theologians to follow more thoroughly all implications of dogmatically held positions and to consider more thoroughly new ways of thinking of the person as an emergent reality. Copyright © 2012 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

Assessing and Modulating Kynurenine Pathway Dynamics in Huntington's Disease: Focus on Kynurenine 3-Monooxygenase.

Science.gov (United States)

Sathyasaikumar, Korrapati V; Breda, Carlo; Schwarcz, Robert; Giorgini, Flaviano

2018-01-01

The link between disturbances in kynurenine pathway (KP) metabolism and Huntington's disease (HD) pathogenesis has been explored for a number of years. Several novel genetic and pharmacological tools have recently been developed to modulate key regulatory steps in the KP such as the reaction catalyzed by the enzyme kynurenine 3-monooxygenase (KMO). This insight has offered new options for exploring the mechanistic link between this metabolic pathway and HD, and provided novel opportunities for the development of candidate drug-like compounds. Here, we present an overview of the field, focusing on some novel approaches for interrogating the pathway experimentally.

Decreased mitochondrial density and ultrastructural changes of mitochondria in cultivated skin fibroblasts of patients with Huntington´s disease

Czech Academy of Sciences Publication Activity Database

Rodinová, M.; Marková, M.; Kratochvílová, H.; Kučerová, I.; Tesařová, M.; Lišková, Irena; Klempíř, J.; Roth, J.; Zeman, J.; Hansíková, H.

2015-01-01

Roč. 78, Suppl 2 (2015), s. 20-21 ISSN 1210-7859. [Conference on Animal Models for neurodegenerative Diseases /3./. 08.11.2015-10.11.2015, Liblice] R&D Projects: GA MŠk ED2.1.00/03.0124; GA MŠk(CZ) 7F14308 Institutional support: RVO:67985904 Keywords : Huntington ´s disease * fibroblasts * mitochondrial ultrastructure Subject RIV: FH - Neurology

Ernst Rüdin’s Unpublished 1922-1925 Study “Inheritance of Manic-Depressive Insanity”: Genetic Research Findings Subordinated to Eugenic Ideology

Science.gov (United States)

Kösters, Gundula; Steinberg, Holger; Kirkby, Kenneth Clifford; Himmerich, Hubertus

2015-01-01

In the early 20th century, there were few therapeutic options for mental illness and asylum numbers were rising. This pessimistic outlook favoured the rise of the eugenics movement. Heredity was assumed to be the principal cause of mental illness. Politicians, scientists and clinicians in North America and Europe called for compulsory sterilisation of the mentally ill. Psychiatric genetic research aimed to prove a Mendelian mode of inheritance as a scientific justification for these measures. Ernst Rüdin’s seminal 1916 epidemiological study on inheritance of dementia praecox featured large, systematically ascertained samples and statistical analyses. Rüdin’s 1922–1925 study on the inheritance of “manic-depressive insanity” was completed in manuscript form, but never published. It failed to prove a pattern of Mendelian inheritance, counter to the tenets of eugenics of which Rüdin was a prominent proponent. It appears he withheld the study from publication, unable to reconcile this contradiction, thus subordinating his carefully derived scientific findings to his ideological preoccupations. Instead, Rüdin continued to promote prevention of assumed hereditary mental illnesses by prohibition of marriage or sterilisation and was influential in the introduction by the National Socialist regime of the 1933 “Law for the Prevention of Hereditarily Diseased Offspring” (Gesetz zur Verhütung erbkranken Nachwuchses). PMID:26544949

Haplotype-based stratification of Huntington's disease.

Science.gov (United States)

Chao, Michael J; Gillis, Tammy; Atwal, Ranjit S; Mysore, Jayalakshmi Srinidhi; Arjomand, Jamshid; Harold, Denise; Holmans, Peter; Jones, Lesley; Orth, Michael; Myers, Richard H; Kwak, Seung; Wheeler, Vanessa C; MacDonald, Marcy E; Gusella, James F; Lee, Jong-Min

2017-11-01

Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by expansion of a CAG trinucleotide repeat in HTT, resulting in an extended polyglutamine tract in huntingtin. We and others have previously determined that the HD-causing expansion occurs on multiple different haplotype backbones, reflecting more than one ancestral origin of the same type of mutation. In view of the therapeutic potential of mutant allele-specific gene silencing, we have compared and integrated two major systems of HTT haplotype definition, combining data from 74 sequence variants to identify the most frequent disease-associated and control chromosome backbones and revealing that there is potential for additional resolution of HD haplotypes. We have used the large collection of 4078 heterozygous HD subjects analyzed in our recent genome-wide association study of HD age at onset to estimate the frequency of these haplotypes in European subjects, finding that common genetic variation at HTT can distinguish the normal and CAG-expanded chromosomes for more than 95% of European HD individuals. As a resource for the HD research community, we have also determined the haplotypes present in a series of publicly available HD subject-derived fibroblasts, induced pluripotent cells, and embryonic stem cells in order to facilitate efforts to develop inclusive methods of allele-specific HTT silencing applicable to most HD patients. Our data providing genetic guidance for therapeutic gene-based targeting will significantly contribute to the developments of rational treatments and implementation of precision medicine in HD.

Educar para regenerar e selecionar. Convergências entre os ideários eugênico e educacional no Brasil Educating to regenerate and select. Convergences between the eugenic and educational principles in Brazil

Directory of Open Access Journals (Sweden)

Regina Cândida Ellero Gualtieri

2008-12-01

Full Text Available O artigo discute algumas convergências entre o pensamento eugenista e o pensamento pedagógico brasileiro do início do século 20. O ideário eugênico incluía a convicção de que diferenças individuais eram biologicamente determinadas e isso foi considerado um avanço por educadores como Fernando de Azevedo (1894-1974, membro da Sociedade Eugênica de São Paulo (1918-1919, pois, nessa perspectiva, todo indivíduo teria o direito a ser educado e regenerado até onde suas “aptidões permitissem”. A educação deixaria de ser privilégio de condição social para constituir “direito biológico”, propiciando a seleção “dos mais bem-sucedidos” e a construção da “hierarquia das capacidades”. Esse entendimento evoca o que Michel Foucault denominou “biopoder” – um modo de tratar os fenômenos coletivos como problema biológico e político – para cuidar do “homem-espécie” e não apenas do indivíduo, garantindo normas capazes de distribuir os indivíduos em um “domínio de valor e utilidade” e instalando mecanismos para qualificar e hierarquizar populações. Muitas dessas questões permanecem no debate educacional contemporâneo. Palavras-chave: Eugenia. Biopoder. Seleção. Regeneração. Educação eugênica. This article discusses convergences between eugenics and the Brazilian pedagogic educational principles in the beginning of the 20th century. The eugenical ideal stated that individual differences were biologically determined and this conception was considered a progressive idea by educators like Fernando de Azevedo (1894-1974 who belonged to the Eugenics Society of Sao Paulo (1918-1919. In this perspective, every individual was entitled to being educated as well as regenerated according to his abilities and this meant that education wouldn’t be treated as a privilege of the social high classes anymore. Such understanding evokes what Michel Foucault named “biopower” – a way to control an

Huntington Disease - principles and practice of nutritional management.

Science.gov (United States)

Zukiewicz-Sobczak, Wioletta; Król, Renata; Wróblewska, Paula; Piątek, Jacek; Gibas-Dorna, Magdalena

2014-01-01

Huntington disease (HD) is a degenerative brain disease clinically manifested by the characteristic triad: physical symptoms including involuntary movements and poor coordination, cognitive changes with less ability to organize routine tasks, and some emotional and behavioral disturbances. For patients with HD, feeding is one of the problems they have to face. People with HD often have lower than average body weight and struggle with malnutrition. As a part of therapy, good nutrition is an intervention maintaining health and functional ability for maximally prolonged time. In the early stages of HD, small amounts of blenderized foods given orally are recommended. In more advanced stages, enteral nutrition is essential using gastric, or jejunal tubes for short term. Most severe cases require gastrostomy or gastrojejunostomy. Although enteral feeding is well tolerated by most of the patients, a number of complications may occur, including damage to the nose, pharynx, or esophagus, aspiration pneumonia, sinusitis, metabolic imbalances due to improper nutrient and fluid supply, adverse effects affecting gastrointestinal system, and refeeding syndrome. Copyright © 2014 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

Exploring Genetic Factors Involved in Huntington Disease Age of Onset

DEFF Research Database (Denmark)

Valcárcel-Ocete, Leire; Alkorta-Aranburu, Gorka; Iriondo, Mikel

2015-01-01

age (motor AO or mAO). Multiple linear regression analyses were performed between genetic variation within 20 candidate genes and eAO or mAO, using DNA and clinical information of 253 HD patients from REGISTRY project. Gene expression analyses were carried out by RT-qPCR with an independent sample......Age of onset (AO) of Huntington disease (HD) is mainly determined by the length of the CAG repeat expansion (CAGexp) in exon 1 of the HTT gene. Additional genetic variation has been suggested to contribute to AO, although the mechanism by which it could affect AO is presently unknown. The aim...... of this study is to explore the contribution of candidate genetic factors to HD AO in order to gain insight into the pathogenic mechanisms underlying this disorder. For that purpose, two AO definitions were used: the earliest age with unequivocal signs of HD (earliest AO or eAO), and the first motor symptoms...

Stimulating neural plasticity with real-time fMRI neurofeedback in Huntington's disease: A proof of concept study.

Science.gov (United States)

Papoutsi, Marina; Weiskopf, Nikolaus; Langbehn, Douglas; Reilmann, Ralf; Rees, Geraint; Tabrizi, Sarah J

2018-03-01

Novel methods that stimulate neuroplasticity are increasingly being studied to treat neurological and psychiatric conditions. We sought to determine whether real-time fMRI neurofeedback training is feasible in Huntington's disease (HD), and assess any factors that contribute to its effectiveness. In this proof-of-concept study, we used this technique to train 10 patients with HD to volitionally regulate the activity of their supplementary motor area (SMA). We collected detailed behavioral and neuroimaging data before and after training to examine changes of brain function and structure, and cognitive and motor performance. We found that patients overall learned to increase activity of the target region during training with variable effects on cognitive and motor behavior. Improved cognitive and motor performance after training predicted increases in pre-SMA grey matter volume, fMRI activity in the left putamen, and increased SMA-left putamen functional connectivity. Although we did not directly target the putamen and corticostriatal connectivity during neurofeedback training, our results suggest that training the SMA can lead to regulation of associated networks with beneficial effects in behavior. We conclude that neurofeedback training can induce plasticity in patients with Huntington's disease despite the presence of neurodegeneration, and the effects of training a single region may engage other regions and circuits implicated in disease pathology. © 2017 The Authors. Human Brain Mapping Published by Wiley Periodicals, Inc.

Cognitive change in patients with Huntington disease on the Repeatable Battery for the Assessment of Neuropsychological Status.

Science.gov (United States)

Beglinger, Leigh J; Duff, Kevin; Allison, Jessica; Theriault, Danielle; O'Rourke, Justin J F; Leserman, Anne; Paulsen, Jane S

2010-07-01

Huntington disease (HD) is a neurodegenerative disease associated with cognitive, motor, and psychiatric deterioration over time. Although there is currently no cure for HD, there has been a surge of clinical trials available to patients with HD over the past 5 years. However, cognitive measures have generally been lacking from these trials. A brief, repeatable neuropsychological battery is needed to assess cognitive endpoints. The Repeatable Battery for the Assessment of Neuropsychological Status (RBANS) may be useful for assessing change in interventional studies or for clinical monitoring. A total of 38 patients with HD were assessed using the RBANS, other cognitive tests, and the standardized HD battery (Unified Huntington's Disease Rating Scale, UHDRS) at two clinic visits approximately 16 months apart. The RBANS Attention Index, as well as individual subtest scores on Coding, Digit Span, List Recognition, Figure Copy, and Figure Recall all declined significantly over this interval. Performance on the UHDRS cognitive tests (Symbol Digit Modalities; Stroop Color, and Stroop Word) also declined, as did functional capacity. Results suggest that cognitive changes were detected both on established cognitive tasks used in HD research and on the RBANS in patients with measurable functional decline. The RBANS provided additional information about other cognitive domains affected (e.g., memory) and may be a useful measure for tracking longitudinal change.

Eugenics and racial biology in Sweden and the USSR: contacts across the Baltic Sea.

Science.gov (United States)

Rudling, Per Anders

2014-01-01

The 1920s saw a significant exchange between eugenicists in Sweden and the young Soviet state. Sweden did not take part in World War I, and during the years following immediately upon the Versailles peace treaty, Swedish scholars came to serve as an intermediary link between, on the one hand, Soviet Russia and Weimar Germany, and, on the other hand, Western powers. Swedish eugenicists organized conferences, lecture tours, visits, scholarly exchanges, and transfers and translation of eugenic research. Herman Lundborg, the director of the world's first State Institute of Racial Biology, was an old-fashioned, deeply conservative, and anti-communist "scientific" racist, who somewhat paradoxically came to serve as something of a Western liaison for Soviet eugenicists. Whereas the contacts were disrupted in 1930, Swedish eugenicists had a lasting impact on Soviet physical anthropologists, who cited their works well into the 1970s, long after they had been discredited in Sweden.

The functional implications of motor, cognitive, psychiatric, and social problem-solving states in Huntington's disease.

Science.gov (United States)

Van Liew, Charles; Gluhm, Shea; Goldstein, Jody; Cronan, Terry A; Corey-Bloom, Jody

2013-01-01

Huntington's disease (HD) is a genetic, neurodegenerative disorder characterized by motor, cognitive, and psychiatric dysfunction. In HD, the inability to solve problems successfully affects not only disease coping, but also interpersonal relationships, judgment, and independent living. The aim of the present study was to examine social problem-solving (SPS) in well-characterized HD and at-risk (AR) individuals and to examine its unique and conjoint effects with motor, cognitive, and psychiatric states on functional ratings. Sixty-three participants, 31 HD and 32 gene-positive AR, were included in the study. Participants completed the Social Problem-Solving Inventory-Revised: Long (SPSI-R:L), a 52-item, reliable, standardized measure of SPS. Items are aggregated under five scales (Positive, Negative, and Rational Problem-Solving; Impulsivity/Carelessness and Avoidance Styles). Participants also completed the Unified Huntington's Disease Rating Scale functional, behavioral, and cognitive assessments, as well as additional neuropsychological examinations and the Symptom Checklist-90-Revised (SCL-90R). A structural equation model was used to examine the effects of motor, cognitive, psychiatric, and SPS states on functionality. The multifactor structural model fit well descriptively. Cognitive and motor states uniquely and significantly predicted function in HD; however, neither psychiatric nor SPS states did. SPS was, however, significantly related to motor, cognitive, and psychiatric states, suggesting that it may bridge the correlative gap between psychiatric and cognitive states in HD. SPS may be worth assessing in conjunction with the standard gamut of clinical assessments in HD. Suggestions for future research and implications for patients, families, caregivers, and clinicians are discussed.

Health-related quality of life and unmet healthcare needs in Huntington's disease.

Science.gov (United States)

van Walsem, Marleen R; Howe, Emilie I; Ruud, Gunvor A; Frich, Jan C; Andelic, Nada

2017-01-07

Huntington's disease (HD) is a rare neurodegenerative disorder with a prevalence of 6 per 100.000. Despite increasing research activity on HD, evidence on healthcare utilization, patients' needs for healthcare services and Health-Related Quality of Life (HRQoL) is still sparse. The present study describes HRQoL in a Norwegian cohort of HD patients, and assesses associations between unmet healthcare and social support service needs and HRQoL. In this cross-sectional population-based study, 84 patients with a clinical diagnosis of HD living in the South-East of Norway completed the HRQoL questionnaire EuroQol, EQ-5D-3L. Unmet needs for healthcare and social support services were assessed by the Needs and Provision Complexity Scale (NPCS). Furthermore, functional ability was determined using the Unified Huntington's Disease Rating Scale (UHDRS) Functional assessment scales. Socio-demographics (age, gender, marital status, occupation, residence, housing situation) and clinical characteristics (disease duration, total functional capacity, comorbidity) were also recorded. Descriptive statistics were used to describe the patients' HRQoL. Regression analyses were conducted in order to investigate the relationship between unmet healthcare needs and self-reported HRQoL. The patients were divided across five disease stages as follows: Stage I: n = 12 (14%), Stage II: n = 22 (27%), Stage III: n = 19 (23%), Stage IV: n = 14 (16%), and Stage V: n = 17 (20%). Overall HRQoL was lowest in patients with advanced disease (Stages IV and V), while patients in the middle phase (Stage III) showed the most varied health profile for the five EQ-5D-3L dimensions. The regression model including level of unmet needs, clinical characteristics and demographics (age and education) accounted for 42% of variance in HRQoL. A higher level of unmet needs was associated with lower HRQoL (β value - 0.228; p = 0.018) whereas a better total functional capacity corresponded to

Progressive Impairment of Lactate-based Gluconeogenesis in the Huntington's Disease Mouse Model R6/2.

Science.gov (United States)

Nielsen, Signe Marie Borch; Hasholt, Lis; Nørremølle, Anne; Josefsen, Knud

2015-04-20

Huntington's disease (HD) is a neurodegenerative illness, where selective neuronal loss in the brain caused by expression of mutant huntingtin protein leads to motor dysfunction and cognitive decline in addition to peripheral metabolic changes. In this study we confirm our previous observation of impairment of lactate-based hepatic gluconeogenesis in the transgenic HD mouse model R6/2 and determine that the defect manifests very early and progresses in severity with disease development, indicating a potential to explore this defect in a biomarker context. Moreover, R6/2 animals displayed lower blood glucose levels during prolonged fasting compared to wild type animals.

Psychiatric and cognitive symptoms in Huntington's disease are modified by polymorphisms in catecholamine regulating enzyme genes

DEFF Research Database (Denmark)

Vinther-Jensen, T; Nielsen, Troels Tolstrup; Budtz-Jørgensen, E

2016-01-01

Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder characterized by motor, psychiatric, and cognitive manifestations. HD is caused by a CAG repeat expansion in the Huntingtin (HTT) gene but the exact pathogenesis remains unknown. Dopamine imbalance has......-described cohort of Danish HD gene-expansion carriers. We show that cognitive impairment and psychiatric symptoms in HD are modified by polymorphisms in the monoamine oxidase A (MAOA) and catechol-O-methyltransferase (COMT) genes and by the 4p16.3 B haplotype. These results support the theory of dopamine imbalance...

Association Between Motor Symptoms and Brain Metabolism in Early Huntington Disease.

Science.gov (United States)

Gaura, Véronique; Lavisse, Sonia; Payoux, Pierre; Goldman, Serge; Verny, Christophe; Krystkowiak, Pierre; Damier, Philippe; Supiot, Frédéric; Bachoud-Levi, Anne-Catherine; Remy, Philippe

2017-09-01

Brain hypometabolism is associated with the clinical consequences of the degenerative process, but little is known about regional hypermetabolism, sometimes observed in the brain of patients with clinically manifest Huntington disease (HD). Studying the role of regional hypermetabolism is needed to better understand its interaction with the motor symptoms of the disease. To investigate the association between brain hypometabolism and hypermetabolism with motor scores of patients with early HD. This study started in 2001, and analysis was completed in 2016. Sixty symptomatic patients with HD and 15 healthy age-matched control individuals underwent positron emission tomography to measure cerebral metabolism in this cross-sectional study. They also underwent the Unified Huntington's Disease Rating Scale motor test, and 2 subscores were extracted: (1) a hyperkinetic score, combining dystonia and chorea, and (2) a hypokinetic score, combining bradykinesia and rigidity. Statistical parametric mapping software (SPM5) was used to identify all hypo- and hypermetabolic regions in patients with HD relative to control individuals. Correlation analyses (P motor subscores and brain metabolic values were performed for regions with significant hypometabolism and hypermetabolism. Among 60 patients with HD, 22 were women (36.7%), and the mean (SD) age was 44.6 (7.6) years. Of the 15 control individuals, 7 were women (46.7%), and the mean (SD) age was 42.2 (7.3) years. In statistical parametric mapping, striatal hypometabolism was significantly correlated with the severity of all motor scores. Hypermetabolism was negatively correlated only with hypokinetic scores in the cuneus (z score = 3.95, P motor scores were associated with higher metabolic values in the inferior parietal lobule, anterior cingulate, inferior temporal lobule, the dentate nucleus, and the cerebellar lobules IV/V, VI, and VIII bilaterally corresponding to the motor regions of the cerebellum (z score = 3

Striatal hypometabolism in premanifest and manifest Huntington's disease patients

Energy Technology Data Exchange (ETDEWEB)

Lopez-Mora, Diego Alfonso; Camacho, Valle; Fernandez, Alejandro; Montes, Alberto; Carrio, Ignasi [Autonomous University of Barcelona, Nuclear Medicine Department, Hospital Sant Pau, Barcelona (Spain); Perez-Perez, Jesus; Martinez-Horta, Sauel; Kulisevsky, Jaime [Autonomous University of Barcelona, Movement Disorders Unit, Neurology Department, Hospital Sant Pau, Barcelona (Spain); Sampedro, Frederic [University of Barcelona, Barcelona (Spain); Lozano-Martinez, Gloria Andrea; Gomez-Anson, Beatriz [Autonomous University of Barcelona, Neuroradiology, Radiology Department, Hospital Sant Pau, Barcelona (Spain)

2016-11-15

To assess metabolic changes in cerebral {sup 18}F-FDG PET/CT in premanifest and manifest Huntington's disease (HD) subjects compared to a control group and to correlate {sup 18}F-FDG uptake patterns with different disease stages. Thirty-three gene-expanded carriers (Eight males; mean age: 43 y/o; CAG > 39) were prospectively included. Based on the Unified Huntington's Disease Rating Scale Total Motor Score and the Total Functional Capacity, subjects were classified as premanifest (preHD = 15) and manifest (mHD = 18). Estimated time disease-onset was calculated using the Langbehn formula, which allowed classifying preHD as far-to (preHD-A) and close-to (PreHD-B) disease-onset. Eighteen properly matched participants were included as a control group (CG). All subjects underwent brain {sup 18}F-FDG PET/CT and MRI. {sup 18}F-FDG PET/CT were initially assessed by two nuclear medicine physicians identifying qualitative metabolic changes in the striatum. Quantitative analysis was performed using SPM8 with gray matter atrophy correction using the BPM toolbox. Visual analysis showed a marked striatal hypometabolism in mHD. A normal striatal distribution of {sup 18}F-FDG uptake was observed for most of the preHD subjects. Quantitative analysis showed a significant striatal hypometabolism in mHD subjects compared to CG (p < 0.001 uncorrected, k = 50 voxels). In both preHD groups we observed a significant striatal hypometabolism with respect to CG (p < 0.001 uncorrected, k = 50 voxels). In mHD subjects we observed a significant striatal hypometabolism with respect to both preHD groups (p < 0.001 uncorrected, k = 50 voxels). {sup 18}F-FDG PET/CT might be a helpful tool to identify patterns of glucose metabolism in the striatum across the stages of HD and might be relevant in assessing the clinical status of gene-expanded HD carriers due to the fact that dysfunctional glucose metabolism begins at early preHD stages of the disease. {sup 18}F-FDG PET/CT appears as a

Neuropsychological correlates of brain atrophy in Huntington's disease: a magnetic resonance imaging study

International Nuclear Information System (INIS)

Starkstein, S.E.; Brandt, J.; Bylsma, F.; Peyser, C.; Folstein, M.; Folstein, S.E.

1992-01-01

Magnetic resonance imaging and a comprehensive cognitive evaluation were carried out in a series of 29 patients with mild to moderate Huntington's disease (HD). A factor analysis of the neuropsychological test scores provided three factors: A memory/speed-of-processing factor, a 'frontal' factor, and a response inhibition factor. The memory/speed factor correlated significantly with measures of caudate atrophy, frontal atrophy, and atrophy of the left (but not the right) sylvian cistern. There were no significant correlations between the 'frontal' or response inhibition factors and measures of cortical or subcortical brain atrophy. Our findings confirm that subcortical atrophy is significantly correlated with specific cognitive deficits in HD, and demonstrate that cortical atrophy also has important association with the cognitive deficits of patients with HD. (orig.)

Social Cognition, Executive Functions and Self-Report of Psychological Distress in Huntington's Disease

DEFF Research Database (Denmark)

Larsen, Ida Unmack; Vinther-Jensen, Tua; Nielsen, Jørgen Erik

2016-01-01

OBJECTIVE: Huntington's disease (HD) is characterized by motor symptoms, psychiatric symptoms and cognitive impairment in, inter alia, executive functions and social cognition. The aim of this study was to investigate the relationship between subjective feeling of psychological distress using...... a self-report questionnaire and performances on tests of executive functions and social cognition in a large consecutive cohort of HD patients. METHOD: 50 manifest HD patients were tested in social cognition and executive functions and each answered a self-report questionnaire about current status...... psychological distress was significantly associated with worse performances on social cognitive tests (mean absolute correlation .34) and that there were no significant correlations between perceived psychological distress and performance on tests of executive functions. The correlations between perceived...

Medical management of motor manifestations of Huntington disease.

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McCusker, Elizabeth A; Loy, Clement T

2017-01-01

The motor and movement disorders of Huntington disease (HD) are managed in the context of the other disease features. Chorea and dystonia are the most common HD-associated movement disorders, and they can be assessed on research rating scales. However other motor manifestations have a significant impact. In particular, dysphagia influences choice and tolerance of treatment for the movement disorder, as will comorbidities, patient awareness, and distress related to the motor feature or movement. Treatment for other disease features may aggravate the motor disorder, e.g., increased swallowing difficulty associated with antipsychotic agents. Basic principles in deciding to institute a treatment are outlined as well as treatment of specific motor manifestations and movements. There is a paucity of evidence to support the treatments available for the motor disorder, with only one agent with class 1 evidence, tetrabenazine, for chorea. There are, however, treatments informed by expert opinion which reflect the management of a wider HD phenotype than that represented in clinical trials. Some treatments are based on evidence from use in other conditions. Medical management is usually undertaken later in the disease with concurrent nonmedical interventions after multidisciplinary assessments. Medication review with HD progression is essential. Copyright © 2017 Elsevier B.V. All rights reserved.

Eugenics, environment, and acclimatizing to Manchukuo: psychiatric studies of Japanese colonists.

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Matsumura, Janice

2010-09-01

Both the advocates and critics of what has been called "the new imperial history," which may be characterized by its focus on how colonies were not simply influenced by but also exercised an influence on a dominating foreign state, have inspired this article. The article addresses the production and dissemination of medical knowledge in its examination of psychiatric research conducted in the 1930s in Japan's unofficial colony of Manchukuo. It highlights the political dimension of studies of psychosomatic disorders, syphilis, and alcoholism among colonists by placing it in the context of contending theories of racial improvement and growing official support for mass migration, especially to northeast China. Moreover, it inquires into restrictions on the flow of ideas from the colonies by examining how these studies were received in Japan. While interest in the colonies ensured that psychiatrists in Manchukuo were able to publish their research in leading Japanese medical journals, their findings jeopardized too many political and professional interests to become more public. In much-publicized debates stimulated by the impeding establishment of eugenic sterilization legislation, their colleagues in Japan in the late 1930s who championed the argument of environment over heredity were conspicuously silent about conditions among Japanese colonists, using instead examples of European and North American colonists to make their case.

R6/2 Huntington's disease mice develop early and progressive abnormal brain metabolism and seizures.

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Cepeda-Prado, Efrain; Popp, Susanna; Khan, Usman; Stefanov, Dimitre; Rodríguez, Jorge; Menalled, Liliana B; Dow-Edwards, Diana; Small, Scott A; Moreno, Herman

2012-05-09

A hallmark feature of Huntington's disease pathology is the atrophy of brain regions including, but not limited to, the striatum. Though MRI studies have identified structural CNS changes in several Huntington's disease (HD) mouse models, the functional consequences of HD pathology during the progression of the disease have yet to be investigated using in vivo functional MRI (fMRI). To address this issue, we first established the structural and functional MRI phenotype of juvenile HD mouse model R6/2 at early and advanced stages of disease. Significantly higher fMRI signals [relative cerebral blood volumes (rCBVs)] and atrophy were observed in both age groups in specific brain regions. Next, fMRI results were correlated with electrophysiological analysis, which showed abnormal increases in neuronal activity in affected brain regions, thus identifying a mechanism accounting for the abnormal fMRI findings. [(14)C] 2-deoxyglucose maps to investigate patterns of glucose utilization were also generated. An interesting mismatch between increases in rCBV and decreases in glucose uptake was observed. Finally, we evaluated the sensitivity of this mouse line to audiogenic seizures early in the disease course. We found that R6/2 mice had an increased susceptibility to develop seizures. Together, these findings identified seizure activity in R6/2 mice and show that neuroimaging measures sensitive to oxygen metabolism can be used as in vivo biomarkers, preceding the onset of an overt behavioral phenotype. Since fMRI-rCBV can also be obtained in patients, we propose that it may serve as a translational tool to evaluate therapeutic responses in humans and HD mouse models.

Eugenics and Mandatory Informed Prenatal Genetic Testing: A Unique Perspective from China.

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Zhang, Di; Ng, Vincent H; Wang, Zhaochen; Zhai, Xiaomei; Lie, Reidar K

2016-08-01

The application of genetic technologies in China, especially in the area of prenatal genetic testing, is rapidly increasing in China. In the wealthy regions of China, prenatal genetic testing is already very widely adopted. We argue that the government should actively promote prenatal genetic testing to the poor areas of the country. In fact, the government should prioritize resources first to make prenatal genetic testing a standard routine care with an opt-out model in these area. Healthcare professions would be required to inform pregnant women about the availability of genetic testing and provide free testing on a routine basis unless the parents choose not to do so. We argue that this proposal will allow parents to make a more informed decision about their reproductive choices. Secondarily, this proposal will attract more healthcare professionals and other healthcare resources to improve the healthcare infrastructures in the less-developed regions of the country. This will help to reduce the inequity of accessing healthcare services between in different regions of China. We further argue that this policy proposal is not practicing eugenics. © 2015 John Wiley & Sons Ltd.

Oxidative Stress and Huntington's Disease: The Good, The Bad, and The Ugly.

Science.gov (United States)

Kumar, Amit; Ratan, Rajiv R

2016-10-01

Redox homeostasis is crucial for proper cellular functions, including receptor tyrosine kinase signaling, protein folding, and xenobiotic detoxification. Under basal conditions, there is a balance between oxidants and antioxidants. This balance facilitates the ability of oxidants, such as reactive oxygen species, to play critical regulatory functions through a direct modification of a small number of amino acids (e.g. cysteine) on signaling proteins. These signaling functions leverage tight spatial, amplitude, and temporal control of oxidant concentrations. However, when oxidants overwhelm the antioxidant capacity, they lead to a harmful condition of oxidative stress. Oxidative stress has long been held to be one of the key players in disease progression for Huntington's disease (HD). In this review, we will critically review this evidence, drawing some intermediate conclusions, and ultimately provide a framework for thinking about the role of oxidative stress in the pathophysiology of HD.

Cognitive and behavioral changes in Huntington disease before diagnosis.

Science.gov (United States)

Paulsen, Jane S; Miller, Amanda C; Hayes, Terry; Shaw, Emily

2017-01-01

Phenotypic manifestations of Huntington disease (HD) can be detected at least 15 years prior to the time when a motor diagnosis is given. Advances in clinical care and future research will require consistent use of HD definitions and HD premanifest (prodromal) stages being used across clinics, sites, and countries. Cognitive and behavioral (psychiatric) changes in HD are summarized and implications for ongoing advancement in our knowledge of prodromal HD are suggested. The earliest detected cognitive changes are observed in the Symbol Digit Modalities Test, Stroop Interference, Stroop Color and Word Test-interference condition, and Trail Making Test. Cognitive changes in the middle and near motor diagnostic stages of prodromal HD involve nearly every cognitive test administered and the greatest changes over time (i.e., slopes) are found in those prodromal HD participants who are nearest to motor diagnosis. Psychiatric changes demonstrate significant worsening over time and remain elevated compared with healthy controls throughout the prodromal disease course. Psychiatric and behavior changes in prodromal HD are much lower than that obtained using cognitive assessment, although the psychiatric and behavioral changes represent symptoms most debilitating to independent capacity and wellness. Copyright © 2017 Elsevier B.V. All rights reserved.

Care of patients with Huntington's disease in South America: a survey

Directory of Open Access Journals (Sweden)

Ricardo Oliveira Horta Maciel

2013-06-01

Full Text Available Huntington's disease (HD is a rare neurodegenerative disease with a multitude of symptoms, which requires access to specialized multidisciplinary care for adequate management. The aim of this study was to survey the characteristics of care in various HD centers in South America (SA. Methods A questionnaire was sent to 24 centers involved in the care for HD patients in SA. Results Of the total 24 centers, 19 (79.2% are academic units. The majority of centers (62.5% are general movement disorders clinics. Multidisciplinary care is available in 19 (79.2% centers and in 20 (83.3% care is provided free of charge. Genetic testing and counseling are available in 25 and 66.6% of centers, respectively. The majority of centers (83.3% have no institutional support for end-stage care. Conclusions Although HD centers in SA are committed to providing multidisciplinary care, access to genetic counseling and end-stage care are lacking in most centers.

Is gardening a stimulating activity for people with advanced Huntington's disease?

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Spring, Josephine A; Viera, Marc; Bowen, Ceri; Marsh, Nicola

2014-11-01

This study evaluated adapted gardening as an activity for people with advanced Huntington's disease (HD) and explored its therapeutic aspects. Visitors and staff completed a questionnaire and participated in structured interviews to capture further information, whereas a pictorial questionnaire was designed for residents with communication difficulties. Staff reported that gardening was a constructive, outdoor activity that promoted social interaction, physical activity including functional movement and posed cognitive challenges. Half the staff thought the activity was problem free and a third used the garden for therapy. Visitors used the garden to meet with residents socially. Despite their disabilities, HD clients enjoyed growing flourishing flowers and vegetables, labelling plants, being outside in the sun and the quiet of the garden. The garden is valued by all three groups. The study demonstrates the adapted method of gardening is a stimulating and enjoyable activity for people with advanced HD. © The Author(s) 2013 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Gardening with Huntington's disease clients--creating a programme of winter activities.

Science.gov (United States)

Spring, Josephine Anne; Baker, Mark; Dauya, Loreane; Ewemade, Ivie; Marsh, Nicola; Patel, Prina; Scott, Adrienne; Stoy, Nicholas; Turner, Hannah; Viera, Marc; Will, Diana

2011-01-01

A programme of garden-related indoor activities was developed to sustain a gardening group for people with mid to late stage Huntington's disease during the winter. The activities were devised by the horticulturist, working empirically, involving the services occupational therapist, physiotherapist, occupational therapy art technician, computer room, recreation and leisure staff. The programme was strongly supported by the nursing and care staff. Feedback on the effectiveness of the activities was sought from the clients, team members and unit staff. The clients' interest in gardening was sustained by a multidisciplinary programme of indoor growing and using plant products in creative activities, computing and group projects. The clients enjoyed all activities except one that they said lacked contact with plants. The inexpensive programme of activities enabled creativity and self-expression, stimulated social contact and helped with therapeutic goals of the clients. In addition, it engaged the multi-disciplinary team and the unit staff, was practical and enhanced the environment.

Arquivo de Antropologia Física do Museu Nacional: fontes para a história da eugenia no Brasil The National Museum's physical anthropology archive: sources on the history of eugenics in Brazil

Directory of Open Access Journals (Sweden)

Vanderlei Sebastião de Souza

2009-09-01

Full Text Available Apresenta um conjunto de fontes documentais que integram o Arquivo de Antropologia Física, de responsabilidade do Setor de Antropologia Biológica do Museu Nacional/UFRJ. O arquivo contém importante documentação sobre o Primeiro Congresso Brasileiro de Eugenia, realizado em 1929, no Rio de Janeiro, em comemoração ao centenário da Academia Nacional de Medicina. Além de originais dos trabalhos apresentados no evento - alguns inéditos -, constam também nesse arquivo documentos reunidos pela secretaria do Congresso, como convocações para a sua realização, ficha dos inscritos, correspondências, recortes de jornais e revistas com artigos sobre eugenia, bem como moções, relatórios e atas finais, constituindo acervo fundamental para a compreensão da história da eugenia no Brasil.The article presents a set of documental sources that are part of the physical anthropology archive administered by the National Museum's biological anthropology sector (UFRJ. The archive holds important documentation on the first Brazilian congress of eugenics, held in Rio de Janeiro in 1929, in celebration of the National Academy of Medicine centennial. In addition to the originals of papers presented at the event (some unpublished, the archive also contains a series of documents compiled by the congress organizers, including announcements of the event, attendee registrations, correspondence, newspaper and magazine clippings of articles on eugenics, as well as motions, reports, and final minutes, all of which makes this collection invaluable in understanding the history of eugenics in Brazil.

Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation

DEFF Research Database (Denmark)

Bech, Sara; Petersen, Thor; Nørremølle, Anne

2010-01-01

The autosomal dominant spinocerebellar ataxias, commonly referred to as SCAs, are clinically and genetically heterogeneous neurodegenerative disorders. Twenty-eight genetic subtypes have been identified, of which 7 are caused by expansion of a CAG trinucleotide repeat that encodes a polyglutamine....... The patient's mother and father both carried normal range repeats, 38/38 and 33/39 respectively. Analysis of the repeat structures revealed that the expansion had occurred upon expansion of the longer paternal allele. We conclude that, however rare, SCA17 must be considered as a cause of Huntington's disease...

Características del habla, el lenguaje y la deglución en la enfermedad de Huntington

OpenAIRE

Camargo-Mendoza, Maryluz; Castillo-Triana, Nicolás; Fandiño-Cardona, Juan Miguel; Mateus-Moreno, Angélica; Moreno-Martínez, Mariana

2017-01-01

Resumen La enfermedad de Huntington (EH) ha sido descrita como una afección de causa genética producida por una mutación en la repetición de la secuencia de nucleótidos CAG (citosina-adenina-guanina). Según el estadio que curse la enfermedad, las personas pueden presentar dificultades en el habla, el lenguaje y la deglución. El propósito de este artículo es exponer con detalle dichas dificultades, así como su tratamiento fonoaudiológico. Se destaca que en el habla se encuentran característica...

["A decision meaning a new foundation...": from the Kaiser Wilhelm Institute for Anthropology, Human Genetics and Eugenics to the Max Planck Institute for Molecular Genetics].

Science.gov (United States)

Sachse, Carola

2011-01-01

The Max Planck Institute for Molecular Genetics (MPIMG) in Berlin-Dahlem dates its establishment to 1964. Its homepage makes no mention of its predecessor institutes, the Kaiser Wilhelm Institute for Anthropology, Human Genetics and Eugenics (KWIA) and the subsequent MPI for Comparative Genetics and Hereditary Pathology (MPIVEE). This article traces the two critical phases of transition regarding the constellations of academic staff, institutional and epistemic ruptures and continuities specific to the era. Only one of the five department heads from the final war years, Hans Nachtsheim, remained a researcher within the Max Planck Society (MPG); he nevertheless continued to advocate the pre-war and wartime eugenic agenda in the life sciences and social policy. The generational change of 1959/60 became a massive struggle within the institute, in which microbial genetics (with Fritz Kaudewitz) was pitted against human genetics (with Friedrich Vogel) and managed to establish itself after a fresh change in personnel in 1964/65. For the Dahlem institute, this involved a far-reaching reorientation of its research, but for the genetically oriented life sciences in the Max Planck Society as a whole it only meant that molecular biology, which was already being pursued in the West German institutes, gained an additional facility. With this realignment of research traditions, the Society was able to draw a line under the Nazi past without having to address it head-on.

Constitutive upregulation of chaperone-mediated autophagy in Huntington's disease.

Science.gov (United States)

Koga, Hiroshi; Martinez-Vicente, Marta; Arias, Esperanza; Kaushik, Susmita; Sulzer, David; Cuervo, Ana Maria

2011-12-14

Autophagy contributes to the removal of prone-to-aggregate proteins, but in several instances these pathogenic proteins have been shown to interfere with autophagic activity. In the case of Huntington's disease (HD), a congenital neurodegenerative disorder resulting from mutation in the huntingtin protein, we have previously described that the mutant protein interferes with the ability of autophagic vacuoles to recognize cytosolic cargo. Growing evidence supports the existence of cross talk among autophagic pathways, suggesting the possibility of functional compensation when one of them is compromised. In this study, we have identified a compensatory upregulation of chaperone-mediated autophagy (CMA) in different cellular and mouse models of HD. Components of CMA, namely the lysosome-associated membrane protein type 2A (LAMP-2A) and lysosomal-hsc70, are markedly increased in HD models. The increase in LAMP-2A is achieved through both an increase in the stability of this protein at the lysosomal membrane and transcriptional upregulation of this splice variant of the lamp-2 gene. We propose that CMA activity increases in response to macroautophagic dysfunction in the early stages of HD, but that the efficiency of this compensatory mechanism may decrease with age and so contribute to cellular failure and the onset of pathological manifestations.

Huntington's disease in Greece: the experience of 14 years.

Science.gov (United States)

Panas, M; Karadima, G; Vassos, E; Kalfakis, N; Kladi, A; Christodoulou, K; Vassilopoulos, D

2011-12-01

A large scale genetic and epidemiological study of Huntington's disease (HD) was carried out in Greece from January 1995 to December 2008. Diagnostic testing was carried out in 461 symptomatic individuals, while 256 were tested for presymptomatic purposes. The diagnosis of HD with a CAG expansion ≥ 36 was confirmed in 278 symptomatic individuals. The prevalence of HD in Greece was estimated at approximately 2.5 to 5.4:100,000, while the mean minimum incidence was estimated at 2.2 to 4.4 per million per year. The molecular diagnosis of HD was confirmed in the majority of patients (84.4%) sent for confirmation. The false-positive cases 15.6% were characterized by the absence of a family history of HD and the presence of an atypical clinical picture. The uptake of predictive testing for HD was 8.6%. A prenatal test was requested in six pregnancies. The findings of our study do not differ significantly from those of similar studies from other European countries despite the relative genetic isolation of Greece. Of interest is the identification of clusters of HD in Greece. The presence or absence of a family history of HD should be interpreted cautiously, during the diagnostic process. © 2010 John Wiley & Sons A/S.

Reduction of IFNα and IL-10 in central nervous system and increase in peripheral IL-8 in transgenic porcine Huntington´s disease model

Czech Academy of Sciences Publication Activity Database

Kovářová, Hana; Valeková, Ivona; Jarkovská, Karla; Kotrčová, Eva; Motlík, Jan; Gadher, S. J.

2015-01-01

Roč. 78, Suppl 2 (2015), s. 10-11 ISSN 1210-7859. [Conference on Animal Models for neurodegenerative Diseases /3./. 08.11.2015-10.11.2015, Liblice] R&D Projects: GA MŠk ED2.1.00/03.0124 Institutional support: RVO:67985904 Keywords : porcine Huntington ´s disease model * IFNα * IL-10 Subject RIV: EB - Genetics ; Molecular Biology

A Juridical Insight of Brave New World: The Eugenics Found on the Selection Criteria of Genetic Material for the Assisted Human Reproduction

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Carlos Eduardo de Oliveira Alban

2016-06-01

Full Text Available Following the teachings of the “Law in the Literature” movement, as well as the method of the Phemenological Hermeneutics, the present essay intends to discuss the eugenics content present in the abstract criteria for donating genetic material in Brazil. In order to present this problem clearly for the reader, the novel Brave New World, from Aldous Huxley, will be used as an example. Opportunely, it will deal with the recent situation regarding the investigation of the London Sperm Bank donators’ politics, in which important debates related to the genetic selection aiming for avoiding congenital diseases appear.

Care of patients with Huntington's disease in South America: a survey Cuidado de pacientes com doença de Huntington na América do Sul: um inquérito

Directory of Open Access Journals (Sweden)

Ricardo Oliveira Horta Maciel

2013-06-01

Full Text Available Huntington's disease (HD is a rare neurodegenerative disease with a multitude of symptoms, which requires access to specialized multidisciplinary care for adequate management. The aim of this study was to survey the characteristics of care in various HD centers in South America (SA. Methods A questionnaire was sent to 24 centers involved in the care for HD patients in SA. Results Of the total 24 centers, 19 (79.2% are academic units. The majority of centers (62.5% are general movement disorders clinics. Multidisciplinary care is available in 19 (79.2% centers and in 20 (83.3% care is provided free of charge. Genetic testing and counseling are available in 25 and 66.6% of centers, respectively. The majority of centers (83.3% have no institutional support for end-stage care. Conclusions Although HD centers in SA are committed to providing multidisciplinary care, access to genetic counseling and end-stage care are lacking in most centers. A doença de Huntington (DH é uma doença neurodegenerativa rara que requer tratamento multidisciplinar especializado para manejo adequado. O objetivo do presente trabalho foi pesquisar as características da assistência à saúde em centros de DH na América do Sul (AS. Métodos Um questionário foi enviado para 24 centros envolvidos no cuidado de pacientes com DH na AS. Resultados Dos 24 centros, 19 (79,2% são unidades acadêmicas. A maioria (62,5% são clínicas de distúrbios dos movimentos. Cuidado multidisciplinar é disponível em 19 (79,2% dos centros e em 20 (83,3%, o tratamento é gratuito. O teste e o aconselhamento genético estão disponíveis em 25 e 66,6% dos centros, respectivamente. Não há suporte institucional para cuidado terminal em 83,3% dos centros. Conclusões Apesar dos centros de DH na AS terem compromisso com o provimento de cuidados multidisciplinares, o acesso a aconselhamento genético e a tratamento na fase terminal são falhos na maioria dos centros.

Liver function in Huntington's disease assessed by blood biochemical analyses in a clinical setting

DEFF Research Database (Denmark)

Nielsen, Signe Marie Borch; Vinther-Jensen, Tua; Nielsen, Jørgen E.

2016-01-01

dysfunction are seen. Blood levels of a wide range of hormones, metabolites and proteins have been analyzed in HD patients, identifying several changes associated with the disease. However, a comprehensive panel of liver function tests (LFT) has not been performed. We investigated a cohort of manifest......Huntington's disease (HD) is a dominantly inherited, progressive neurological disorder caused by a CAG repeat elongation in the huntingtin gene. In addition to motor-, psychiatric- A nd cognitive dysfunction, peripheral disease manifestations in the form of metabolic changes and cellular...... and premanifest HD gene-expansion carriers and controls, using a clinically applied panel of LFTs. Here, we demonstrate that the level of alkaline phosphatase is increased in manifest HD gene-expansion carriers compared to premanifest HD gene-expansion carriers and correlate with increased disease severity...

Early grey matter changes in structural covariance networks in Huntington's disease.

Science.gov (United States)

Coppen, Emma M; van der Grond, Jeroen; Hafkemeijer, Anne; Rombouts, Serge A R B; Roos, Raymund A C

2016-01-01

Progressive subcortical changes are known to occur in Huntington's disease (HD), a hereditary neurodegenerative disorder. Less is known about the occurrence and cohesion of whole brain grey matter changes in HD. We aimed to detect network integrity changes in grey matter structural covariance networks and examined relationships with clinical assessments. Structural magnetic resonance imaging data of premanifest HD ( n  = 30), HD patients (n = 30) and controls (n = 30) was used to identify ten structural covariance networks based on a novel technique using the co-variation of grey matter with independent component analysis in FSL. Group differences were studied controlling for age and gender. To explore whether our approach is effective in examining grey matter changes, regional voxel-based analysis was additionally performed. Premanifest HD and HD patients showed decreased network integrity in two networks compared to controls. One network included the caudate nucleus, precuneous and anterior cingulate cortex (in HD p  covariance might be a sensitive approach to reveal early grey matter changes, especially for premanifest HD.

Perturbations in the p53/miR-34a/SIRT1 pathway in the R6/2 Huntington's disease model

DEFF Research Database (Denmark)

Reynolds, Regina Hertfelder; Petersen, Maria Hvidberg; Willert, Cecilie Wennemoes

2018-01-01

The three factors, p53, the microRNA-34 family and Sirtuin 1 (SIRT1), interact in a positive feedback loop involved in cell cycle progression, cellular senescence and apoptosis. Each factor in this triad has roles in metabolic regulation, maintenance of mitochondrial function, and regulation...... of brain-derived neurotrophic factor (BDNF). Thus, this regulatory network holds potential importance for the pathophysiology of Huntington's disease (HD), an inherited neurodegenerative disorder in which both mitochondrial dysfunction and impaired neurotrophic signalling are observed. We investigated...

Total recognition discriminability in Huntington's and Alzheimer's disease.

Science.gov (United States)

Graves, Lisa V; Holden, Heather M; Delano-Wood, Lisa; Bondi, Mark W; Woods, Steven Paul; Corey-Bloom, Jody; Salmon, David P; Delis, Dean C; Gilbert, Paul E

2017-03-01

Both the original and second editions of the California Verbal Learning Test (CVLT) provide an index of total recognition discriminability (TRD) but respectively utilize nonparametric and parametric formulas to compute the index. However, the degree to which population differences in TRD may vary across applications of these nonparametric and parametric formulas has not been explored. We evaluated individuals with Huntington's disease (HD), individuals with Alzheimer's disease (AD), healthy middle-aged adults, and healthy older adults who were administered the CVLT-II. Yes/no recognition memory indices were generated, including raw nonparametric TRD scores (as used in CVLT-I) and raw and standardized parametric TRD scores (as used in CVLT-II), as well as false positive (FP) rates. Overall, the patient groups had significantly lower TRD scores than their comparison groups. The application of nonparametric and parametric formulas resulted in comparable effect sizes for all group comparisons on raw TRD scores. Relative to the HD group, the AD group showed comparable standardized parametric TRD scores (despite lower raw nonparametric and parametric TRD scores), whereas the previous CVLT literature has shown that standardized TRD scores are lower in AD than in HD. Possible explanations for the similarity in standardized parametric TRD scores in the HD and AD groups in the present study are discussed, with an emphasis on the importance of evaluating TRD scores in the context of other indices such as FP rates in an effort to fully capture recognition memory function using the CVLT-II.

Plasma homovanillic acid and prolactin in Huntington's disease.

Science.gov (United States)

Markianos, Manolis; Panas, Marios; Kalfakis, Nikos; Vassilopoulos, Dimitrios

2009-05-01

Dopaminergic activity is expected to be altered in patients with Huntington's disease (HD) and be related to factors like duration and severity of illness or patients' specific symptomatology like dementia, depression, or psychotic features. We assessed plasma homovanillic acid (pHVA) and plasma prolactin (pPRL), two correlates of dopaminergic activity, in 116 subjects with CAG repeats expansion in the HD gene, 26 presymptomatic (18 females) and 90 with overt symptomatology (43 females). Patients were evaluated using the Unified HD Rating Scale and the Total Functional Capacity Scale. Presence of dementia, depression, and psychotic features were also assessed. The age range of the patients was 22-83 years, duration of illness from 0.5 to 27 years, and CAG repeat number from 34 to 66. A group of 60 age and sex matched healthy subjects served as control group. Plasma PRL in subjects at risk and in neuroleptic-free patients, evaluated separately for males and females, did not differ from controls. Plasma HVA levels did not differ from controls in the group of presymptomatic subjects, but were significantly higher in the patients group. This increase was positively associated mainly with severity of illness and functional capacity of the patients, and not with presence of depression or dementia. Plasma HVA levels may be proven to be a peripheral index of disease progression. Reducing dopaminergic activity may have not only symptomatic, but also neuroprotective effects in HD.

Somatostatin receptor 1 and 5 double knockout mice mimic neurochemical changes of Huntington's disease transgenic mice.

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Padmesh S Rajput

Full Text Available Selective degeneration of medium spiny neurons and preservation of medium sized aspiny interneurons in striatum has been implicated in excitotoxicity and pathophysiology of Huntington's disease (HD. However, the molecular mechanism for the selective sparing of medium sized aspiny neurons and vulnerability of projection neurons is still elusive. The pathological characteristic of HD is an extensive reduction of the striatal mass, affecting caudate putamen. Somatostatin (SST positive neurons are selectively spared in HD and Quinolinic acid/N-methyl-D-aspartic acid induced excitotoxicity, mimic the model of HD. SST plays neuroprotective role in excitotoxicity and the biological effects of SST are mediated by five somatostatin receptor subtypes (SSTR1-5.To delineate subtype selective biological responses we have here investigated changes in SSTR1 and 5 double knockout mice brain and compared with HD transgenic mouse model (R6/2. Our study revealed significant loss of dopamine and cAMP regulated phosphoprotein of 32 kDa (DARPP-32 and comparable changes in SST, N-methyl-D-aspartic acid receptors subtypes, calbindin and brain nitric oxide synthase expression as well as in key signaling proteins including calpain, phospho-extracellular-signal-regulated kinases1/2, synapsin-IIa, protein kinase C-α and calcineurin in SSTR1/5(-/- and R6/2 mice. Conversely, the expression of somatostatin receptor subtypes, enkephalin and phosphatidylinositol 3-kinases were strain specific. SSTR1/5 appears to be important in regulating NMDARs, DARPP-32 and signaling molecules in similar fashion as seen in HD transgenic mice.This is the first comprehensive description of disease related changes upon ablation of G- protein coupled receptor gene. Our results indicate that SST and SSTRs might play an important role in regulation of neurodegeneration and targeting this pathway can provide a novel insight in understanding the pathophysiology of Huntington's disease.

Map showing selected surface-water data for the Huntington 30 x 60-minute quadrangle, Utah

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Price, Don

1984-01-01

This is one of a series of maps that describe the geology and related natural resources of the Huntington 30 x 60-minute quadrangle, Utah. Streamflow records used to compile this map were collected by the U.S. Geological Survey in cooperation with the Utah Department of Natural Resources, Division of Water Rights, and the Utah Department of Transportation. The principal runoff-producing area shown on the map was delineated from a work map (scale 1:250,000) compiled to estimate water yields in Utah (Bagley and others, 1964). Sources of information about recorded floods resulting from cloudbursts included Woolley (1946) and Butler and Marsell (1972); sources of information about the chemical quality of streamflow included Mundorff (1972) and Mundorff and Thompson (1982).

Modulation at Age of Onset in Tunisian Huntington Disease Patients: Implication of New Modifier Genes

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Dorra Hmida-Ben Brahim

2014-01-01

Full Text Available Huntington’s disease (HD is an autosomal dominant neurodegenerative disorder. The causative mutation is an expansion of more than 36 CAG repeats in the first exon of IT15 gene. Many studies have shown that the IT15 interacts with several modifier genes to regulate the age at onset (AO of HD. Our study aims to investigate the implication of CAG expansion and 9 modifiers in the age at onset variance of 15 HD Tunisian patients and to establish the correlation between these modifiers genes and the AO of this disease. Despite the small number of studied patients, this report consists of the first North African study in Huntington disease patients. Our results approve a specific effect of modifiers genes in each population.

Aerial gamma ray and magnetic survey, Huntington quadrangle: Ohio, West Virginia and Kentucky. Final report

International Nuclear Information System (INIS)

1981-04-01

The Huntington quadrangle of Kentucky, Ohio, and West Virginia covers 7250 square miles of the easternmost Midwestern Physiographic Province. Paleozoic exposures dominate the surface. These Paleozoics deepen toward the east from approximately 500 feet to a maximum depth of 8000 feet. Precambrian basement is thought to underlie the entire area. No known uranium deposits exist in the area. One hundred anomalies were found using the standard statistical analysis. Some high uranium concentration anomalies that may overlie the stratigraphic equivalent of the Devonian-Mississippian New Albany or Chattanooga Shales may represent significant levels of naturally occurring uranium. Future studies should concentrate on this unit. Magnetic data are largely in concurrence with existing structural interpretations but suggest some complexities in the underlying Precambrian

Understandings of psychological difficulties in people with the Huntington's disease gene and their expectations of psychological therapy.

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Theed, Rachael; Eccles, Fiona J R; Simpson, Jane

2018-06-01

This study sought to investigate how people who had tested positive for the Huntington's disease (HD) gene mutation understood and experienced psychological distress and their expectations of psychological therapy. A qualitative methodology was adopted involving semi-structured interviews and interpretative phenomenological analysis (IPA). A total of nine participants (five women and four men) who had opted to engage in psychological therapy were recruited and interviewed prior to the start of this particular psychological therapeutic intervention. Interviews were transcribed verbatim and analysed using IPA whereby themes were analysed within and across transcripts and classified into superordinate themes. Three superordinate themes were developed: Attributing psychological distress to HD: 'you're blaming everything on that now'; Changes in attributions of distress over time: 'in the past you'd just get on with it'; and Approaching therapy with an open mind, commitment, and hope: 'a light at the end of the tunnel'. Understandings of psychological distress in HD included biological and psychological explanations, with both often being accepted simultaneously by the same individual but with biomedical accounts generally dominating. Individual experience seemed to reflect a dynamic process whereby people's understanding and experience of their distress changed over time. Psychological therapy was accepted as a positive alternative to medication, providing people with HD with hope that their psychological well-being could be enhanced. People with the Huntington's disease gene mutation have largely biomedical understandings of their psychological distress. This largely biomedical understanding does not, however, preclude them for being interested in the potential gains resulting from psychological therapy. The mechanisms of psychological therapy should be explained in detail before therapy and explored along with current attributions of distress. © 2017 The British

Revelation of the IFN alpha, IL-10, IL-8 and IL-1 beta as promising biomarkers reflecting immuno-pathological mechanisms in porcine Huntington's disease model

Czech Academy of Sciences Publication Activity Database

Valeková, Ivona; Jarkovská, Karla; Kotrčová, Eva; Bucci, J.; Ellederová, Zdeňka; Juhás, Štefan; Motlík, Jan; Gadher, S. J.; Kovářová, Hana

2016-01-01

Roč. 293, č. 2 (2016), s. 71-81 ISSN 0165-5728 R&D Projects: GA MŠk ED2.1.00/03.0124; GA MŠk(CZ) LO1609 Institutional support: RVO:67985904 Keywords : porcine Huntington´s disease * immune response * cytokines * central nervous system * serum * biomarkers Subject RIV: FH - Neurology Impact factor: 2.720, year: 2016

More than a Mentor: Leonard Darwin's Contribution to the Assimilation of Mendelism into Eugenics and Darwinism.

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Serpente, Norberto

2016-08-01

This article discusses the contribution to evolutionary theory of Leonard Darwin (1850-1943), the eighth child of Charles Darwin. By analysing the correspondence Leonard Darwin maintained with Ronald Aylmer Fisher in conjunction with an assessment of his books and other written works between the 1910s and 1930s, this article argues for a more prominent role played by him than the previously recognised in the literature as an informal mentor of Fisher. The paper discusses Leonard's efforts to amalgamate Mendelism with both Eugenics and Darwinism in order for the first to base their policies on new scientific developments and to help the second in finding a target for natural selection. Without a formal qualification in biological sciences and as such mistrusted by some "formal" scientists, Leonard Darwin engaged with key themes of Darwinism such as mimicry, the role of mutations on speciation and the process of genetic variability, arriving at important conclusions concerning the usefulness of Mendelian genetics for his father's theory.

Female Gynecologists and Their Birth Control Clinics: Eugenics in Practice in 1920s-1930s China.

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David, Mirela

2018-01-01

Yang Chao Buwei, the first Chinese translator of Margaret Sanger's What Every Girl Should Know, was the first female gynecologist to open up a birth control clinic in China. By the 1930s, other female gynecologists, like Guo Taihua, had internalized and combined national and eugenic concerns of race regeneration to focus on the control of women's reproduction. This symbiosis between racial regeneration and birth control is best seen in Yang Chongrui's integration of birth control into her national hygiene program. This article traces the efforts of pioneer gynecologists in giving contraceptive advice at their birth control clinics, which they framed as a humanitarian effort to ease the reproductive burden of working-class women. It also examines their connections with Sanger's international birth control movement, and their advocacy of contraception as practitioners, translators, and educators. The author argues that these Chinese female gynecologists not only borrowed, but adapted, Western scientific knowledge to Chinese social conditions through their writings and translations and in their clinical work.

Detection of early behavioral markers of Huntington's disease in R6/2 mice employing an automated social home cage

DEFF Research Database (Denmark)

Rudenko, Olga; Tkach, Vadim; Berezin, Vladimir

2009-01-01

developed behavior screening system, the IntelliCage, allows automated testing of mouse behavior in the home cage employing individual recognition of animals living in social groups. The present study validates the ability of the IntelliCage system to detect behavioral and cognitive dysfunction in R6/2 mice......Huntington's disease (HD) is an autosomal-dominant neurodegenerative disorder, for which no known cure or effective treatment exists. To facilitate the search for new potential treatments of HD, an automated system for analyzing the behavior of transgenic HD mice is urgently needed. A recently...

Dose-Dependent Lowering of Mutant Huntingtin Using Antisense Oligonucleotides in Huntington Disease Patients.

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van Roon-Mom, Willeke M C; Roos, Raymund A C; de Bot, Susanne T

2018-04-01

On December 11 of 2017, Ionis Pharmaceuticals published a press release announcing dose-dependent reductions of mutant huntingtin protein in their HTTRx Phase 1/2a study in Huntington disease (HD) patients. The results from this Ionis trial have gained much attention from the patient community and the oligonucleotide therapeutics field, since it is the first trial targeting the cause of HD, namely the mutant huntingtin protein, using antisense oligonucleotides (ASOs). The press release also states that the primary endpoints of the study (safety and tolerability) were met, but does not contain data. This news follows the approval of another therapeutic ASO nusinersen (trade name Spinraza) for a neurological disease, spinal muscular atrophy, by the U.S. Food and Drug Administration and European Medicines Agency, in 2016 and 2017, respectively. Combined, this offers hope for the development of the HTTRx therapy for HD patients.

VCE-003.2, a novel cannabigerol derivative, enhances neuronal progenitor cell survival and alleviates symptomatology in murine models of Huntington's disease.

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Díaz-Alonso, Javier; Paraíso-Luna, Juan; Navarrete, Carmen; Del Río, Carmen; Cantarero, Irene; Palomares, Belén; Aguareles, José; Fernández-Ruiz, Javier; Bellido, María Luz; Pollastro, Federica; Appendino, Giovanni; Calzado, Marco A; Galve-Roperh, Ismael; Muñoz, Eduardo

2016-07-19

Cannabinoids have shown to exert neuroprotective actions in animal models by acting at different targets including canonical cannabinoid receptors and PPARγ. We previously showed that VCE-003, a cannabigerol (CBG) quinone derivative, is a novel neuroprotective and anti-inflammatory cannabinoid acting through PPARγ. We have now generated a non-thiophilic VCE-003 derivative named VCE-003.2 that preserves the ability to activate PPARγ and analyzed its neuroprotective activity. This compound exerted a prosurvival action in progenitor cells during neuronal differentiation, which was prevented by a PPARγ antagonist, without affecting neural progenitor cell proliferation. In addition, VCE-003.2 attenuated quinolinic acid (QA)-induced cell death and caspase-3 activation and also reduced mutant huntingtin aggregates in striatal cells. The neuroprotective profile of VCE-003.2 was analyzed using in vivo models of striatal neurodegeneration induced by QA and 3-nitropropionic acid (3NP) administration. VCE-003.2 prevented medium spiny DARPP32(+) neuronal loss in these Huntington's-like disease mice models improving motor deficits, reactive astrogliosis and microglial activation. In the 3NP model VCE-003.2 inhibited the upregulation of proinflammatory markers and improved antioxidant defenses in the brain. These data lead us to consider VCE-003.2 to have high potential for the treatment of Huntington's disease (HD) and other neurodegenerative diseases with neuroinflammatory traits.

Lacanian Orders in Eugene O’Neill’s Long Day’s Journey into Night

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Sima Farshid

2013-03-01

Full Text Available This paper presents a Lacanian reading of Eugene O’Neill’s Long Day’s Journey into Night (1941 by drawing on the psychic orders the well-known French psychoanalyst Jacques Lacan has propounded. He holds that human psyche is formed of three orders (the Imaginary, the Symbolic and the Real which mold the unconscious mind and motivate human actions and reactions. He also argues that the Other has an immense impact on the formation of psychic orders, especially the Symbolic, and hence on one’s identity. The present article attempts to investigate the three orders of the characters O’Neill has portrayed in Long Day’s Journey into Night, besides the role of the Other in the formation of those orders. The reactions of these characters to the outside world are regarded here as the outer presentation of their troubled mind. It is also discussed that the mental and physical problems and disorders of these characters, such as their addiction to alcohol and drugs, are the outcome of their repressed desires which have remained unfulfilled because of the rules defined and imposed on them by the Other – hence the frustrating sense of lack observed in all four characters.

Implementation of Eugene Wigner Training Course at University of 'Politehnica' of Bucharest, Power Engineering Faculty, Nuclear Power Plant Department

International Nuclear Information System (INIS)

Ghizdeanu, E.N.

2004-01-01

The 'Eugene Wigner' training Course for Reactor Physics Experiments has been supported by the 5th Framework Programme of the European Commission, and it has been integrated in the ENEN (European Nuclear Engineering Network) program. This project has been prepared for the future European Nuclear Education schemes and degrees. Starting from a general presentation of the course this paper presents my opinion as a former student about the course impact. In this paper is written my opinion about the following: The content of theoretical courses; The usefulness of the textbook; The content of the practical experiments; The usefulness of the textbook for the practical experiments, and evaluations. Moreover, parts of this course were implemented to my seminars. Results, expectations and conclusions about the usefulness of the course are presented. (author)

Embodied emotion impairment in Huntington's Disease.

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Trinkler, Iris; Devignevielle, Sévérine; Achaibou, Amal; Ligneul, Romain V; Brugières, Pierre; Cleret de Langavant, Laurent; De Gelder, Beatrice; Scahill, Rachael; Schwartz, Sophie; Bachoud-Lévi, Anne-Catherine

2017-07-01

Theories of embodied cognition suggest that perceiving an emotion involves somatovisceral and motoric re-experiencing. Here we suggest taking such an embodied stance when looking at emotion processing deficits in patients with Huntington's Disease (HD), a neurodegenerative motor disorder. The literature on these patients' emotion recognition deficit has recently been enriched by some reports of impaired emotion expression. The goal of the study was to find out if expression deficits might be linked to a more motoric level of impairment. We used electromyography (EMG) to compare voluntary emotion expression from words to emotion imitation from static face images, and spontaneous emotion mimicry in 28 HD patients and 24 matched controls. For the latter two imitation conditions, an underlying emotion understanding is not imperative (even though performance might be helped by it). EMG measures were compared to emotion recognition and to the capacity to identify and describe emotions using alexithymia questionnaires. Alexithymia questionnaires tap into the more somato-visceral or interoceptive aspects of emotion perception. Furthermore, we correlated patients' expression and recognition scores to cerebral grey matter volume using voxel-based morphometry (VBM). EMG results replicated impaired voluntary emotion expression in HD. Critically, voluntary imitation and spontaneous mimicry were equally impaired and correlated with impaired recognition. By contrast, alexithymia scores were normal, suggesting that emotion representations on the level of internal experience might be spared. Recognition correlated with brain volume in the caudate as well as in areas previously associated with shared action representations, namely somatosensory, posterior parietal, posterior superior temporal sulcus (pSTS) and subcentral sulcus. Together, these findings indicate that in these patients emotion deficits might be tied to the "motoric level" of emotion expression. Such a double

Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16

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Djoussé, Luc; Knowlton, Beth; Hayden, Michael R.; Almqvist, Elisabeth W.; Brinkman, Ryan R.; Ross, Christopher A.; Margolis, Russel L.; Rosenblatt, Adam; Durr, Alexandra; Dode, Catherine; Morrison, Patrick J.; Novelletto, Andrea; Frontali, Marina; Trent, Ronald J. A.; McCusker, Elizabeth; Gómez-Tortosa, Estrella; Mayo Cabrero, David; Jones, Randi; Zanko, Andrea; Nance, Martha; Abramson, Ruth K.; Suchowersky, Oksana; Paulsen, Jane S.; Harrison, Madaline B.; Yang, Qiong; Cupples, L. Adrienne; Mysore, Jayalakshmi; Gusella, James F.; MacDonald, Marcy E.

2007-01-01

Huntington disease (HD) is a neurodegenerative disorder caused by the abnormal expansion of CAG repeats in the HD gene on chromosome 4p16.3. A recent genome scan for genetic modifiers of age at onset of motor symptoms (AO) in HD suggests that one modifier may reside in the region close to the HD gene itself. We used data from 535 HD participants of the New England Huntington cohort and the HD MAPS cohort to assess whether AO was influenced by any of the three markers in the 4p16 region: MSX1 (Drosophila homeo box homologue 1, formerly known as homeo box 7, HOX7), Δ2642 (within the HD coding sequence), and BJ56 (D4S127). Suggestive evidence for an association was seen between MSX1 alleles and AO, after adjustment for normal CAG repeat, expanded repeat, and their product term (model P value 0.079). Of the variance of AO that was not accounted for by HD and normal CAG repeats, 0.8% could be attributed to the MSX1 genotype. Individuals with MSX1 genotype 3/3 tended to have younger AO. No association was found between Δ2642 (P=0.44) and BJ56 (P=0.73) and AO. This study supports previous studies suggesting that there may be a significant genetic modifier for AO in HD in the 4p16 region. Furthermore, the modifier may be present on both HD and normal chromosomes bearing the 3 allele of the MSX1 marker. PMID:15029481

Disruption of astrocyte-neuron cholesterol cross talk affects neuronal function in Huntington's disease.

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Valenza, M; Marullo, M; Di Paolo, E; Cesana, E; Zuccato, C; Biella, G; Cattaneo, E

2015-04-01

In the adult brain, neurons require local cholesterol production, which is supplied by astrocytes through apoE-containing lipoproteins. In Huntington's disease (HD), such cholesterol biosynthesis in the brain is severely reduced. Here we show that this defect, occurring in astrocytes, is detrimental for HD neurons. Astrocytes bearing the huntingtin protein containing increasing CAG repeats secreted less apoE-lipoprotein-bound cholesterol in the medium. Conditioned media from HD astrocytes and lipoprotein-depleted conditioned media from wild-type (wt) astrocytes were equally detrimental in a neurite outgrowth assay and did not support synaptic activity in HD neurons, compared with conditions of cholesterol supplementation or conditioned media from wt astrocytes. Molecular perturbation of cholesterol biosynthesis and efflux in astrocytes caused similarly altered astrocyte-neuron cross talk, whereas enhancement of glial SREBP2 and ABCA1 function reversed the aspects of neuronal dysfunction in HD. These findings indicate that astrocyte-mediated cholesterol homeostasis could be a potential therapeutic target to ameliorate neuronal dysfunction in HD.

D-β-hydroxybutyrate is protective in mouse models of Huntington's disease.

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Soyeon Lim

Full Text Available Abnormalities in mitochondrial function and epigenetic regulation are thought to be instrumental in Huntington's disease (HD, a fatal genetic disorder caused by an expanded polyglutamine track in the protein huntingtin. Given the lack of effective therapies for HD, we sought to assess the neuroprotective properties of the mitochondrial energizing ketone body, D-β-hydroxybutyrate (DβHB, in the 3-nitropropionic acid (3-NP toxic and the R6/2 genetic model of HD. In mice treated with 3-NP, a complex II inhibitor, infusion of DβHB attenuates motor deficits, striatal lesions, and microgliosis in this model of toxin induced-striatal neurodegeneration. In transgenic R6/2 mice, infusion of DβHB extends life span, attenuates motor deficits, and prevents striatal histone deacetylation. In PC12 cells with inducible expression of mutant huntingtin protein, we further demonstrate that DβHB prevents histone deacetylation via a mechanism independent of its mitochondrial effects and independent of histone deacetylase inhibition. These pre-clinical findings suggest that by simultaneously targeting the mitochondrial and the epigenetic abnormalities associated with mutant huntingtin, DβHB may be a valuable therapeutic agent for HD.

Diffusion tensor imaging of brain white matter in Huntington gene mutation individuals

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Roberta Arb Saba

Full Text Available ABSTRACT Objective To evaluate the role of the involvement of white matter tracts in huntingtin gene mutation patients as a potential biomarker of the progression of the disease. Methods We evaluated 34 participants (11 symptomatic huntingtin gene mutation, 12 presymptomatic huntingtin gene mutation, and 11 controls. We performed brain magnetic resonance imaging to assess white matter integrity using diffusion tensor imaging, with measurement of fractional anisotropy. Results We observed a significant decrease of fractional anisotropy in the cortical spinal tracts, corona radiate, corpus callosum, external capsule, thalamic radiations, superior and inferior longitudinal fasciculus, and inferior frontal-occipital fasciculus in the Huntington disease group compared to the control and presymptomatic groups. Reduction of fractional anisotropy is indicative of a degenerative process and axonal loss. There was no statistically significant difference between the presymptomatic and control groups. Conclusion White matter integrity is affected in huntingtin gene mutation symptomatic individuals, but other studies with larger samples are required to assess its usefulness in the progression of the neurodegenerative process.

A highly active endo-levanase BT1760 of a dominant mammalian gut commensal Bacteroides thetaiotaomicron cleaves not only various bacterial levans, but also levan of timothy grass

DEFF Research Database (Denmark)

Mardo, Karin; Visnapuu, Triinu; Vija, Heiki

2017-01-01

of Pseudomonas syringae pv. tomato, its mutant Asp300Asn, levansucrases of Zymomonas mobilis, Erwinia herbicola, Halomonas smyrnensis as well as on levan isolated from timothy grass. For the first time a plant levan is shown as a perfect substrate for an endo-fructanase of a human gut bacterium. BT1760 degraded...... levans to FOS with degree of polymerization from 2 to 13. At optimal reaction conditions up to 1 g of FOS were produced per 1 mg of BT1760 protein. Low molecular weight (grass levan and levan synthesized from sucrose by the Lsc3Asp300Asn, were degraded most rapidly...... whilst levan produced by Lsc3 from raffinose least rapidly. BT1760 catalyzed finely at human body temperature (37°C) and in moderately acidic environment (pH 5-6) that is typical for the gut lumen. According to differential scanning fluorimetry, the Tm of the endo-levanase was 51.5°C. All tested levans...

PPARGC1A/PGC-1α, TFEB and enhanced proteostasis in Huntington disease: Defining regulatory linkages between energy production and protein–organelle quality control

OpenAIRE

La Spada, Albert R.

2012-01-01

Huntington disease (HD) results from CAG repeats that encode expanded polyglutamine tracts in the HTT/huntingtin protein. HD belongs to a large category of inherited and sporadic neurodegenerative disorders in which production of a misfolded protein initiates the pathogenic cascade. Previous studies have shown that misfolded proteins become resistant to cellular protein turnover pathways by eluding and disabling the ubiquitin-proteasome system (UPS) and autophagy-lysosome pathway. Based upon ...

Age at onset in Huntington's disease: replication study on the association of HAP1.

Science.gov (United States)

Karadima, Georgia; Dimovasili, Christina; Koutsis, Georgios; Vassilopoulos, Demetris; Panas, Marios

2012-11-01

In recent years two association studies investigating the HAP1 T441M (rs4523977) polymorphism as a potential modifying factor of the age at onset (AAO) of Huntington's disease (HD), have been reported. Initially evidence for association was found between the M441 risk allele and the AAO. Subsequently, a second study, although failing to replicate these findings, found evidence for association between the same risk allele and AAO of motor symptoms (mAAO). In the present study, the role of the HAP1 T441M polymorphism as a modifier of the AAO in HD was investigated in a cohort of 298 Greek HD patients. In this cohort the CAG repeat number accounted for 55% of the variance in AAO. No association was found between the HAP1 T441M polymorphism and the AAO of HD. © 2012 Elsevier Ltd. All rights reserved.

Bradykinesia in Huntington's disease. A prospective, follow-up study.

Science.gov (United States)

García Ruiz, Pedro J; Hernández, Jaime; Cantarero, Susana; Bartolomé, Manuel; Sánchez Bernardos, Vicenta; García de Yébenez, Justo

2002-04-01

Bradykinesia is a frequent finding in Huntington's disease (HD), but some aspects are presently unknown; including the natural evolution of bradykinesia over time and the correlation between bradykinesia and functional capacity. We studied the motor performance of 20 genetically confirmed patients with HD (age: 40+/-10.8 years; age at onset 33.6+/-11 years; total functional capacity (TFC): 9.57+/-3; UHDRS total motor scale: 31.4+/-13, triplet length (CAG)n: 46.7+/-4 triplets). These patients were studied in baseline conditions and after 18.7+/-6 months of follow-up. In addition, HD patients were compared with 20 age-matched normal controls. Motor study included the four CAPIT timed tests commonly used for Parkinson's disease: pronation-supination (PS), finger dexterity (FD), movement between two points (MTP) and walking test (WT). HD patients were significantly slower than controls in all motor tasks. A significant deterioration occurred over time in three of the four motor tasks (especially FD and WT). A significant correlation between timed tests and TFC score was found (for MTP, r: -0.845; p < 0,0001). In addition a significant correlation between timed tests and the UHDRDS total motor scale was also found (for MTP, r: 0.864; p < 0.0001). In conclusion, simple timed motor tests can detect a deterioration of motor activity over time in HD. Timed tests might be useful to follow the natural evolution of HD and to assess the efficacy of new therapies.

Therapeutic approaches to preventing cell death in Huntington disease.

Science.gov (United States)

Kaplan, Anna; Stockwell, Brent R

2012-12-01

Neurodegenerative diseases affect the lives of millions of patients and their families. Due to the complexity of these diseases and our limited understanding of their pathogenesis, the design of therapeutic agents that can effectively treat these diseases has been challenging. Huntington disease (HD) is one of several neurological disorders with few therapeutic options. HD, like numerous other neurodegenerative diseases, involves extensive neuronal cell loss. One potential strategy to combat HD and other neurodegenerative disorders is to intervene in the execution of neuronal cell death. Inhibiting neuronal cell death pathways may slow the development of neurodegeneration. However, discovering small molecule inhibitors of neuronal cell death remains a significant challenge. Here, we review candidate therapeutic targets controlling cell death mechanisms that have been the focus of research in HD, as well as an emerging strategy that has been applied to developing small molecule inhibitors-fragment-based drug discovery (FBDD). FBDD has been successfully used in both industry and academia to identify selective and potent small molecule inhibitors, with a focus on challenging proteins that are not amenable to traditional high-throughput screening approaches. FBDD has been used to generate potent leads, pre-clinical candidates, and has led to the development of an FDA approved drug. This approach can be valuable for identifying modulators of cell-death-regulating proteins; such compounds may prove to be the key to halting the progression of HD and other neurodegenerative disorders. Copyright © 2012 Elsevier Ltd. All rights reserved.

[As the twig is bent, so is the tree inclined: children and the Liga Brasileira de Higiene Mental's eugenic programs].

Science.gov (United States)

Reis, J R

2000-01-01

Created in the early 1920s, at a moment when the country's psychiatric field was embracing the preventive outlook, the Liga Brasileira de Higiene Mental included within its members the elite of Brazilian psychiatry, along with a number of physicians and intellectuals. The article discusses the institution's proposals for intervention among children. The league ended up incorporating into its theoretical arsenal the basic themes of mental hygiene and eugenics as part of its general goal of collaborating in Brazil's process of "racial sanitation". With this objective in mind, and viewing the child as a "pre-citizen" who is a "fundamental part within the man of the future", league members included the children's issue in their projects and saw an imperative need for mental health care from early ages on.

‘The woman was deceived and became a sinner’ – a literary-theological investigation of 1 Timothy 2:11–15

Directory of Open Access Journals (Sweden)

Abiola I. Mbamalu

2014-07-01

Full Text Available In 1 Timothy 2:11–15 women are forbidden to teach and have authority over men in the church. The ground for this instruction is the creation account in Genesis 2 that asserts the priority of Adam over Eve in the order of creation. The second reason for the instruction is the deception of Eve according to the account of the Fall in Genesis 3. This pericope has elicited arguments between advocates of egalitarianism and complementarianism revolving over the issues of grammar, the context of the Ephesian church with regard to false teachings and the comparison of this text with the other writings of Paul, for those that subscribe to the authorship of Paul. The contention of this article is that verse 15 provides a major clue as to how this text should be understood. In addition, the author’s rhetoric in this text is interrogated with regard to the text’s own internal literary and theological logic. In this regard, the author is found to be inconsistent in his outlook, for the grace that was poured out abundantly on him: a blasphemer, a persecutor and a violent man and on account of his ignorance andunbelief (1 Tm 1:12–16 is apparently, being denied women on account of Eve’s deception.

Estudio de los procesos activadores de la patologia en la enfermedad de Huntington: Alteraciones en la plasticidad sinaptica y perspectivas terapeuticas

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Giralt Torroella, Albert

2010-01-01

[spa] La presente tesis posee una introducción donde se plantea y explica la sintomatología, genética y fisiopatología de la enfermedad de Huntington (EH). También explicamos los distintos modelos animales usados para el estudio de la enfermedad y resaltamos su relevancia para propuestas terapéuticas. Seguidamente introducimos lo que son las ideas principales de la tesis. Estas son, el interés por el estudio de los procesos fisiopatológicos de aparición más temprana para la planificación tera...

Identification of extreme motor phenotypes in Huntington's disease.

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Braisch, Ulrike; Hay, Birgit; Muche, Rainer; Rothenbacher, Dietrich; Landwehrmeyer, G Bernhard; Long, Jeffrey D; Orth, Michael

2017-04-01

The manifestation of motor signs in Huntington's disease (HD) has a well-known inverse relationship with HTT CAG repeat length, but the prediction is far from perfect. The probability of finding disease modifiers is enhanced in individuals with extreme HD phenotypes. We aimed to identify extreme HD motor phenotypes conditional on CAG and age, such as patients with very early or very late onset of motor manifestation. Retrospective data were available from 1,218 healthy controls and 9,743 HD participants with CAG repeats ≥40, and a total of about 30,000 visits. Boundaries (2.5% and 97.5% quantiles) for extreme motor phenotypes (UHDRS total motor score (TMS) and motor age-at-onset) were estimated using quantile regression for longitudinal data. More than 15% of HD participants had an extreme TMS phenotype for at least one visit. In contrast, only about 4% of participants were consistent TMS extremes at two or more visits. Data from healthy controls revealed an upper cut-off of 13 for the TMS representing the extreme of motor ratings for a normal aging population. In HD, boundaries of motor age-at-onset based on diagnostic confidence or derived from the TMS data cut-off in controls were similar. In summary, a UHDRS TMS of more than 13 in an individual carrying the HD mutation indicates a high likelihood of motor manifestations of HD irrespective of CAG repeat length or age. The identification of motor phenotype extremes can be useful in the search for disease modifiers, for example, genetic or environmental such as medication. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Brain imaging and cognitive dysfunctions in Huntington's disease

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Montoya, Alonso; Price, Bruce H.; Menear, Matthew; Lepage, Martin

2006-01-01

Recent decades have seen tremendous growth in our understanding of the cognitive dysfunctions observed in Huntington's disease (HD). Advances in neuroimaging have contributed greatly to this growth. We reviewed the role that structural and functional neuroimaging techniques have played in elucidating the cerebral bases of the cognitive deficits associated with HD. We conducted a computer-based search using PubMed and PsycINFO databases to retrieve studies of patients with HD published between 1965 and December 2004 that reported measures on cognitive tasks and used neuroimaging techniques. Structural neuroimaging has provided important evidence of morphological brain changes in HD. Striatal and cortical atrophy are the most common findings, and they correlate with cognitive deficits in attention, working memory and executive functions. Functional studies have also demonstrated correlations between striatal dysfunction and cognitive performance. Striatal hypoperfusion and decreased glucose utilization correlate with executive dysfunction. Hypometabolism also occurs throughout the cerebral cortex and correlates with performance on recognition memory, language and perceptual tests. Measures of presynaptic and postsynaptic dopamine biochemistry have also correlated with measurements of episodic memory, speed of processing and executive functioning. Aided by the results of numerous neuroimaging studies, it is becoming increasingly clear that cognitive deficits in HD involve abnormal connectivity between the basal ganglia and cortical areas. In the future, neuroimaging techniques may shed the most light on the pathophysiology of HD by defining neurodegenerative disease phenotypes as a valuable tool for knowing when patients become “symptomatic,” having been in a gene-positive presymptomatic state, and as a biomarker in following the disease, thereby providing a prospect for improved patient care. PMID:16496032

Riluzole protects Huntington disease patients from brain glucose hypometabolism and grey matter volume loss and increases production of neurotrophins

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Squitieri, Ferdinando; Orobello, Sara; Cannella, Milena; Martino, Tiziana [IRCCS Neuromed, Neurogenetics Unit and Centre for Rare Disease, Pozzilli (Italy); Romanelli, Pantaleo [IRCCS Neuromed, Department of Neurosurgery, Pozzilli (Italy); Giovacchini, Giampiero; Ciarmiello, Andrea [S. Andrea Hospital, Unit of Nuclear Medicine, La Spezia (Italy); Frati, Luigi [University ' ' Sapienza' ' , Department of Experimental Medicine, Rome (Italy); Mansi, Luigi [Second University of Naples, Department of Nuclear Medicine, Naples (Italy)

2009-07-15

Huntington disease (HD) mutation increases gain-of-toxic functions contributing to glutamate-mediated excitotoxicity. Riluzole interferes with glutamatergic neurotransmission, thereby reducing excitotoxicity, enhancing neurite formation in damaged motoneurons and increasing serum concentrations of BDNF, a brain cortex neurotrophin protecting striatal neurons from degeneration. We investigated metabolic and volumetric differences in distinct brain areas between 11 riluzole-treated and 12 placebo-treated patients by MRI and {sup 18}F-fluoro-2-deoxy-d-glucose (FDG) PET scanning, according to fully automated protocols. We also investigated the influence of riluzole on peripheral growth factor blood levels. Placebo-treated patients showed significantly greater proportional volume loss of grey matter and decrease in metabolic FDG uptake than patients treated with riluzole in all cortical areas (p<0.05). The decreased rate of metabolic FDG uptake correlated with worsening clinical scores in placebo-treated patients, compared to those who were treated with riluzole. The progressive decrease in metabolic FDG uptake observed in the frontal, parietal and occipital cortex correlated linearly with the severity of motor scores calculated by Unified Huntington Disease Rating Scale (UHDRS-I) in placebo-treated patients. Similarly, the rate of metabolic changes in the frontal and temporal areas of the brain cortex correlated linearly with worsening behavioural scores calculated by UHDRS-III in the placebo-treated patients. Finally, BDNF and transforming growth factor beta-1 serum levels were significantly higher in patients treated with riluzole. The linear correlation between decreased metabolic FDG uptake and worsening clinical scores in the placebo-treated patients suggests that FDG-PET may be a valuable procedure to assess brain markers of HD. (orig.)

Riluzole protects Huntington disease patients from brain glucose hypometabolism and grey matter volume loss and increases production of neurotrophins

International Nuclear Information System (INIS)

Squitieri, Ferdinando; Orobello, Sara; Cannella, Milena; Martino, Tiziana; Romanelli, Pantaleo; Giovacchini, Giampiero; Ciarmiello, Andrea; Frati, Luigi; Mansi, Luigi

2009-01-01

Huntington disease (HD) mutation increases gain-of-toxic functions contributing to glutamate-mediated excitotoxicity. Riluzole interferes with glutamatergic neurotransmission, thereby reducing excitotoxicity, enhancing neurite formation in damaged motoneurons and increasing serum concentrations of BDNF, a brain cortex neurotrophin protecting striatal neurons from degeneration. We investigated metabolic and volumetric differences in distinct brain areas between 11 riluzole-treated and 12 placebo-treated patients by MRI and 18 F-fluoro-2-deoxy-d-glucose (FDG) PET scanning, according to fully automated protocols. We also investigated the influence of riluzole on peripheral growth factor blood levels. Placebo-treated patients showed significantly greater proportional volume loss of grey matter and decrease in metabolic FDG uptake than patients treated with riluzole in all cortical areas (p<0.05). The decreased rate of metabolic FDG uptake correlated with worsening clinical scores in placebo-treated patients, compared to those who were treated with riluzole. The progressive decrease in metabolic FDG uptake observed in the frontal, parietal and occipital cortex correlated linearly with the severity of motor scores calculated by Unified Huntington Disease Rating Scale (UHDRS-I) in placebo-treated patients. Similarly, the rate of metabolic changes in the frontal and temporal areas of the brain cortex correlated linearly with worsening behavioural scores calculated by UHDRS-III in the placebo-treated patients. Finally, BDNF and transforming growth factor beta-1 serum levels were significantly higher in patients treated with riluzole. The linear correlation between decreased metabolic FDG uptake and worsening clinical scores in the placebo-treated patients suggests that FDG-PET may be a valuable procedure to assess brain markers of HD. (orig.)

Identification of elevated urea as a severe, ubiquitous metabolic defect in the brain of patients with Huntington's disease.

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Patassini, Stefano; Begley, Paul; Reid, Suzanne J; Xu, Jingshu; Church, Stephanie J; Curtis, Maurice; Dragunow, Mike; Waldvogel, Henry J; Unwin, Richard D; Snell, Russell G; Faull, Richard L M; Cooper, Garth J S

Huntington's disease (HD) is a neurodegenerative disorder wherein the aetiological defect is a mutation in the Huntington's gene (HTT), which alters the structure of the huntingtin protein through the lengthening of a polyglutamine tract and initiates a cascade that ultimately leads to dementia and premature death. However, neurodegeneration typically manifests in HD only in middle age, and processes linking the causative mutation to brain disease are poorly understood. Here, our objective was to elucidate further the processes that cause neurodegeneration in HD, by measuring levels of metabolites in brain regions known to undergo varying degrees of damage. We applied gas-chromatography/mass spectrometry-based metabolomics in a case-control study of eleven brain regions in short post-mortem-delay human tissue from nine well-characterized HD patients and nine controls. Unexpectedly, a single major abnormality was evident in all eleven brain regions studied across the forebrain, midbrain and hindbrain, namely marked elevation of urea, a metabolite formed in the urea cycle by arginase-mediated cleavage of arginine. Urea cycle activity localizes primarily in the liver, where it functions to incorporate protein-derived amine-nitrogen into urea for recycling or urinary excretion. It also occurs in other cell-types, but systemic over-production of urea is not known in HD. These findings are consistent with impaired local urea regulation in brain, by up-regulation of synthesis and/or defective clearance. We hypothesize that defective brain urea metabolism could play a substantive role in the pathogenesis of neurodegeneration, perhaps via defects in osmoregulation or nitrogen metabolism. Brain urea metabolism is therefore a target for generating novel monitoring/imaging strategies and/or therapeutic interventions aimed at ameliorating the impact of HD in patients. Copyright © 2015 Elsevier Inc. All rights reserved.

Clinical and biomarker changes in premanifest Huntington disease show trial feasibility: a decade of the PREDICT-HD study

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Jane S Paulsen

2014-04-01

Full Text Available There is growing consensus that intervention and treatment of Huntington disease (HD should occur at the earliest stage possible. Various early-intervention methods for this fatal neurodegenerative disease have been identified, but preventive clinical trials for HD are limited by a lack of knowledge of the natural history of the disease and a dearth of appropriate outcome measures. Objectives of the current study are to document the natural history of premanifest HD progression in the largest cohort ever studied and to develop a battery of imaging and clinical markers of premanifest HD progression that can be used as outcome measures in preventive clinical trials. PREDICT-HD is a 32-site, international, observational study of premanifest HD, with annual examination of 1013 participants with premanifest HD and 301 gene-expansion negative controls between 2001 and 2012. Findings document 39 variables representing imaging, motor, cognitive, functional, and psychiatric domains, showing different rates of decline between premanifest Huntington disease and controls. Required sample size and models of premanifest HD are presented to inform future design of clinical and preclinical research. Preventive clinical trials in premanifest HD with participants who have a medium or high probability of motor onset are calculated to be as resource-effective as those conducted in diagnosed HD and could interrupt disease seven to twelve years earlier. Methods and measures for preventive clinical trials in premanifest HD more than a dozen years from motor onset are also feasible. These findings represent the most thorough documentation of a clinical battery for experimental therapeutics in stages of premanifest HD, the time period for which effective intervention may provide the most positive possible outcome for patients and their families affected by this devastating disease.

Inactivation of the Huntington's disease gene (Hdh impairs anterior streak formation and early patterning of the mouse embryo

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Conlon Ronald A

2005-08-01

Full Text Available Abstract Background Huntingtin, the HD gene encoded protein mutated by polyglutamine expansion in Huntington's disease, is required in extraembryonic tissues for proper gastrulation, implicating its activities in nutrition or patterning of the developing embryo. To test these possibilities, we have used whole mount in situ hybridization to examine embryonic patterning and morphogenesis in homozygous Hdhex4/5 huntingtin deficient embryos. Results In the absence of huntingtin, expression of nutritive genes appears normal but E7.0–7.5 embryos exhibit a unique combination of patterning defects. Notable are a shortened primitive streak, absence of a proper node and diminished production of anterior streak derivatives. Reduced Wnt3a, Tbx6 and Dll1 expression signify decreased paraxial mesoderm and reduced Otx2 expression and lack of headfolds denote a failure of head development. In addition, genes initially broadly expressed are not properly restricted to the posterior, as evidenced by the ectopic expression of Nodal, Fgf8 and Gsc in the epiblast and T (Brachyury and Evx1 in proximal mesoderm derivatives. Despite impaired posterior restriction and anterior streak deficits, overall anterior/posterior polarity is established. A single primitive streak forms and marker expression shows that the anterior epiblast and anterior visceral endoderm (AVE are specified. Conclusion Huntingtin is essential in the early patterning of the embryo for formation of the anterior region of the primitive streak, and for down-regulation of a subset of dynamic growth and transcription factor genes. These findings provide fundamental starting points for identifying the novel cellular and molecular activities of huntingtin in the extraembryonic tissues that govern normal anterior streak development. This knowledge may prove to be important for understanding the mechanism by which the dominant polyglutamine expansion in huntingtin determines the loss of neurons in

Inactivation of the Huntington's disease gene (Hdh) impairs anterior streak formation and early patterning of the mouse embryo.

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Woda, Juliana M; Calzonetti, Teresa; Hilditch-Maguire, Paige; Duyao, Mabel P; Conlon, Ronald A; MacDonald, Marcy E

2005-08-18

Huntingtin, the HD gene encoded protein mutated by polyglutamine expansion in Huntington's disease, is required in extraembryonic tissues for proper gastrulation, implicating its activities in nutrition or patterning of the developing embryo. To test these possibilities, we have used whole mount in situ hybridization to examine embryonic patterning and morphogenesis in homozygous Hdh(ex4/5) huntingtin deficient embryos. In the absence of huntingtin, expression of nutritive genes appears normal but E7.0-7.5 embryos exhibit a unique combination of patterning defects. Notable are a shortened primitive streak, absence of a proper node and diminished production of anterior streak derivatives. Reduced Wnt3a, Tbx6 and Dll1 expression signify decreased paraxial mesoderm and reduced Otx2 expression and lack of headfolds denote a failure of head development. In addition, genes initially broadly expressed are not properly restricted to the posterior, as evidenced by the ectopic expression of Nodal, Fgf8 and Gsc in the epiblast and T (Brachyury) and Evx1 in proximal mesoderm derivatives. Despite impaired posterior restriction and anterior streak deficits, overall anterior/posterior polarity is established. A single primitive streak forms and marker expression shows that the anterior epiblast and anterior visceral endoderm (AVE) are specified. Huntingtin is essential in the early patterning of the embryo for formation of the anterior region of the primitive streak, and for down-regulation of a subset of dynamic growth and transcription factor genes. These findings provide fundamental starting points for identifying the novel cellular and molecular activities of huntingtin in the extraembryonic tissues that govern normal anterior streak development. This knowledge may prove to be important for understanding the mechanism by which the dominant polyglutamine expansion in huntingtin determines the loss of neurons in Huntington's disease.

Striatal pre-enkephalin overexpression improves Huntington's disease symptoms in the R6/2 mouse model of Huntington's disease.

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Stéphanie Bissonnette

Full Text Available The reduction of pre-enkephalin (pENK mRNA expression might be an early sign of striatal neuronal dysfunction in Huntington's disease (HD, due to mutated huntingtin protein. Indeed, striatopallidal (pENK-containing neurodegeneration occurs at earlier stage of the disease, compare to the loss of striatonigral neurons. However, no data are available about the functional role of striatal pENK in HD. According to the neuroprotective properties of opioids that have been recognized recently, the objective of this study was to investigate whether striatal overexpression of pENK at early stage of HD can improve motor dysfunction, and/or reduce striatal neuronal loss in the R6/2 transgenic mouse model of HD. To achieve this goal recombinant adeno-associated-virus (rAAV2-containing green fluorescence protein (GFP-pENK was injected bilaterally in the striatum of R6/2 mice at 5 weeks old to overexpress opioid peptide pENK. Striatal injection of rAAV2-GFP was used as a control. Different behavioral tests were carried out before and/or after striatal injections of rAAV2. The animals were euthanized at 10 weeks old. Our results demonstrate that striatal overexpression of pENK had beneficial effects on behavioral symptoms of HD in R6/2 by: delaying the onset of decline in muscular force; reduction of clasping; improvement of fast motor activity, short-term memory and recognition; as well as normalization of anxiety-like behavior. The improvement of behavioral dysfunction in R6/2 mice having received rAAV2-GFP-pENK associated with upregulation of striatal pENK mRNA; the increased level of enkephalin peptide in the striatum, globus pallidus and substantia nigra; as well as the slight increase in the number of striatal neurons compared with other groups of R6/2. Accordingly, we suggest that at early stage of HD upregulation of striatal enkephalin might play a key role at attenuating illness symptoms.

Test-Retest Reliability of Diffusion Tensor Imaging in Huntington's Disease.

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Cole, James H; Farmer, Ruth E; Rees, Elin M; Johnson, Hans J; Frost, Chris; Scahill, Rachael I; Hobbs, Nicola Z

2014-03-21

Diffusion tensor imaging (DTI) has shown microstructural abnormalities in patients with Huntington's Disease (HD) and work is underway to characterise how these abnormalities change with disease progression. Using methods that will be applied in longitudinal research, we sought to establish the reliability of DTI in early HD patients and controls. Test-retest reliability, quantified using the intraclass correlation coefficient (ICC), was assessed using region-of-interest (ROI)-based white matter atlas and voxelwise approaches on repeat scan data from 22 participants (10 early HD, 12 controls). T1 data was used to generate further ROIs for analysis in a reduced sample of 18 participants. The results suggest that fractional anisotropy (FA) and other diffusivity metrics are generally highly reliable, with ICCs indicating considerably lower within-subject compared to between-subject variability in both HD patients and controls. Where ICC was low, particularly for the diffusivity measures in the caudate and putamen, this was partly influenced by outliers. The analysis suggests that the specific DTI methods used here are appropriate for cross-sectional research in HD, and give confidence that they can also be applied longitudinally, although this requires further investigation. An important caveat for DTI studies is that test-retest reliability may not be evenly distributed throughout the brain whereby highly anisotropic white matter regions tended to show lower relative within-subject variability than other white or grey matter regions.

Hacia una terapia neuroprotectora con cannabinoides en la enfermedad de Huntington : estudios preclínicos y clínicos

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Valdeolivas Rojas, Sara

2017-01-01

La enfermedad de Huntington (EH) es una enfermedad con herencia autosómica dominante causada por una mutación en el gen IT15, que codifica la proteína huntingtina (HTT). Esta proteína presenta una amplia expresión células de mamíferos y, aunque su función exacta no es totalmente conocida, se sabe que está relacionada con la modulación de procesos celulares tales como transcripción génica, señalización celular, metabolismo energético y neurogénesis. La mutación consiste en una expansión excesi...

Positron emission tomographic scan investigations of Huntington's disease: cerebral metabolic correlates of cognitive function

International Nuclear Information System (INIS)

Berent, S.; Giordani, B.; Lehtinen, S.; Markel, D.; Penney, J.B.; Buchtel, H.A.; Starosta-Rubinstein, S.; Hichwa, R.; Young, A.B.

1988-01-01

Fifteen drug-free patients with early to mid-stage Huntington's disease (HD) were evaluated with positron emission tomographic (PET) scans of 18 F-2-fluoro-2-deoxy-D-glucose uptake and quantitative measures of neurological function, learning, memory, and general intelligence. In comparison with a group of normal volunteers, the HD patients showed lower metabolism in both caudate (p less than 0.001) and putamen (p less than 0.001) on PET scans. A significant and positive relationship was found between neuropsychological measures of verbal learning and memory and caudate metabolism in the patient group but not in the normal group. Visual-spatial learning did not reflect a similar pattern, but performance intelligence quotient was positively related to both caudate and putamen metabolism in the HD group. Vocabulary level was unrelated to either brain structure. Discussion focuses on these and other observed brain-behavior relationships and on the implications of these findings for general behaviors such as those involved in coping and adaptation

Tics as an initial manifestation of juvenile Huntington's disease: case report and literature review.

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Cui, Shi-Shuang; Ren, Ru-Jing; Wang, Ying; Wang, Gang; Chen, Sheng-Di

2017-08-08

Huntington's disease (HD) is an autosomal dominant disorder, typically characterized by chorea due to a trinucleotide repeat expansion in the HTT gene, although the clinical manifestations of patients with juvenile HD (JHD) are atypical. A 17-year-old boy with initial presentation of tics attended our clinic and his DNA analysis demonstrated mutation in the HTT gene (49 CAG repeats). After treatment, his symptoms improved. Furthermore, we performed literature review through searching the databases and summarized clinical features in 33 JHD patients. The most prevalent symptoms are ataxia, and two cases reported that tics as initial and prominent manifestation in JHD. Among them, 88% patients carried CAG repeats beyond 60 and most of them have family history. This case here illustrates the variable range of clinical symptoms of JHD and the necessity of testing for the HD mutation in young patients with tics with symptoms unable to be explained by Tourette's syndrome (TS).

From mild ataxia to huntington disease phenocopy: the multiple faces of spinocerebellar ataxia 17.

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Koutsis, Georgios; Panas, Marios; Paraskevas, George P; Bougea, Anastasia M; Kladi, Athina; Karadima, Georgia; Kapaki, Elisabeth

2014-01-01

Introduction. Spinocerebellar ataxia 17 (SCA 17) is a rare autosomal dominant cerebellar ataxia (ADCA) caused by a CAG/CAA expansion in the TBP gene, reported from a limited number of countries. It is a very heterogeneous ADCA characterized by ataxia, cognitive decline, psychiatric symptoms, and involuntary movements, with some patients presenting with Huntington disease (HD) phenocopies. The SCA 17 expansion is stable during parent-child transmission and intrafamilial phenotypic homogeneity has been reported. However, significant phenotypic variability within families has also been observed. Report of the Family. We presently report a Greek family with a pathological expansion of 54 repeats at the SCA 17 locus that displayed remarkable phenotypic variability. Among 3 affected members, one presented with HD phenocopy; one with progressive ataxia, dementia, chorea, dystonia, and seizures, and one with mild slowly progressive ataxia with minor cognitive and affective symptoms. Conclusions. This is the first family with SCA 17 identified in Greece and highlights the multiple faces of this rare disorder, even within the same family.