The implausibility of Mendel's theory before 1900.

PubMed

Orel, V

Attention is paid to the category of the plausibility of Mendel's terminology in formulating the research problem, in describing experimental model and research method and in explaining his theory in the historical context of the long lasting enigma of generation, hybridization and heredity. The new research problem of heredity derived from the enigma of generation was plausible for the sheep breeders in Brno in 1836-1837 who also formulated the research question: what and how is inherited? But they did not find an approach to the experimental investigation. Later in 1852 the research problem of heredity was formulated by the physiologist of the Göttingen University, R. Wagner, who also outlined the method of crossing animals or artifical fertilization of plants for the investigation of the enigma of generation and heredity. But he could not carry out the recommended experiments at the University. His proposal remained without echo. Mendel first mentioned the motivation for his research arising from plant breeding experience and then from the experiments with plant crossing by botanists. He delivered his lectures in Brno to the community of naturalists, who paid attention to the appearance of hybrids in nature, but were not interested in plant breeding. After describing research model and experimental method Mendel presented the sequence of hypotheses proved in experiments and explained the origin and development of hybrids and at the same time also the mechanism of fertilization and of transmission of traits, what was heredity without using the term. The listeners of his lectures and later the readers of his paper did not understand his explanation. ...

Learning about Heredity and Embryology. Superific Science Book II. A Good Apple Science Activity Book for Grades 5-8+.

ERIC Educational Resources Information Center

Conway, Lorraine

Designed to provide teachers with low cost laboratory exercises, project ideas, and classroom activities for individuals and groups, this document focuses on the concepts of heredity and embryology. The materials address the topics of: (1) cell division; (2) the identification of the human embryo; (3) chromosomes; (4) DNA; (5) differences in the…

Modeling of process of forming quality parameters for surfaces of parts by diamond burnishing taking into account technological heredity

NASA Astrophysics Data System (ADS)

Nagorkin, M. N.; Fyodorov, V. P.; Kovalyova, E. V.

2018-03-01

The paper presents a methodology for quantitative assessment of the influence of technological heredity on the formation of quality parameters for surfaces of machine parts. An example of an estimation of influence factors of technological subsystems of processing by end milling processing by composite 10 and the subsequent diamond burnishing is presented.

Students' Understanding of Cells & Heredity: Patterns of Understanding in the Context of a Curriculum Implementation in Fifth & Seventh Grades

ERIC Educational Resources Information Center

Cisterna, Dante; Williams, Michelle; Merritt, Joi

2013-01-01

This study explores upper-elementary and early-middle-school students' ideas about cells and inheritance and describes patterns of understanding for these topics. Data came from students' responses to embedded assessments included in a technology-enhanced curriculum designed to help students learn about cells and heredity. Our findings suggest…

Personal attributions for melanoma risk in melanoma-affected patients and family members

PubMed Central

Hay, Jennifer; DiBonaventura, Marco; Baser, Raymond; Press, Nancy; Shoveller, Jeanne; Bowen, Deborah

2010-01-01

Personal attributions for cancer risk involve factors that individuals believe contribute to their risk for developing cancer. Understanding personal risk attributions for melanoma may dictate gene-environment melanoma risk communication strategies. We examined attributions for melanoma risk in a population-based sample of melanoma survivors, first degree family members, and family members who are also parents (N=939). We conducted qualitative examination of open-ended risk attributions and logistic regression examining predictors (demographics, family member type, perceived risk) of the attributions reported (ultraviolet radiation [UVR] exposure, heredity/genetics, phenotype, personal melanoma history, miscellaneous). We found a predominance of risk attributions to UVR and heredity/genetics (80% and 45% of the sample, respectively). Those reporting higher education levels were more likely to endorse attributions to heredity/genetics, as well as to phenotype, than those of lower education levels. First-degree relatives and parent family members were more likely to endorse heredity/genetic attributions than melanoma survivors; melanoma survivors were more likely to endorse personal history of melanoma attributions compared to first-degree relatives and parent family members. These findings inform the development of risk communication interventions for melanoma families. PMID:20809355

Interaction of early infant feeding, heredity and other environmental factors as determinants in the development of allergy and sensitization.

PubMed

Savilahti, Erkki

2008-01-01

The role of early infant nutrition in the development of allergic symptoms and allergic sensitization has been disputed for 70 years. Interaction between genetic factors and infant feeding has been limited to studies on parental heredity of allergy and length of breastfeeding, as well as the qualities of breast milk. In the 10 original studies comparing the development of allergic symptoms among children in whom breastfeeding duration was used as a risk factor separately among those with either positive or negative parental heredity for atopy, no definite answer could be found. The effect of early feeding was even changed in both heredity negative and positive groups when looking at symptoms at ages 2 and 5 years. Of 9 possible combinations, 6 were present in the studies, and none in more than 2 studies. For sensitization, long breastfeeding was a risk in 3 of 5 reports if the family history of allergy was positive, and in 2 if negative. Low levels of soluble CD14 and cow's milk-specific IgA antibodies in breast milk may increase an infant's risk of developing allergy.

On S.N. Bernstein’s derivation of Mendel’s Law and ‘rediscovery’ of the Hardy-Weinberg distribution

PubMed Central

Stark, Alan; Seneta, Eugene

2012-01-01

Around 1923 the soon-to-be famous Soviet mathematician and probabilist Sergei N. Bernstein started to construct an axiomatic foundation of a theory of heredity. He began from the premise of stationarity (constancy of type proportions) from the first generation of offspring. This led him to derive the Mendelian coefficients of heredity. It appears that he had no direct influence on the subsequent development of population genetics. A basic assumption of Bernstein was that parents coupled randomly to produce offspring. This paper shows that a simple model of non-random mating, which nevertheless embodies a feature of the Hardy-Weinberg Law, can produce Mendelian coefficients of heredity while maintaining the population distribution. How W. Johannsen’s monograph influenced Bernstein is discussed. PMID:22888285

Health in the Year 2100: What's Heredity Got To Do with It? Genetics Curriculum for High School Biology Students.

ERIC Educational Resources Information Center

Evans, Wayne H.; And Others

This genetics curriculum was conceived to fill the void in the general public's awareness of the importance of heredity and environment in health. The module contains a teacher's manual, student manual, and appendix. Topics are presented in a manner that is intended to be culturally sensitive and meaningful, and to reflect the concerns of the…

Invitations to Heredity: Generation to Generation. Teacher-Friendly Science Activities with Reproducible Handouts in English and Spanish. Grades 3-5. Living Things Science Series.

ERIC Educational Resources Information Center

Camp, Carole Ann, Ed.

This booklet, one of six in the Living Things Science series, presents activities about heredity and genetics which address basic "Benchmarks" suggested by the American Association for the Advancement of Science for the Living Environment for grades 3-5. Contents include background information, vocabulary (in English and Spanish),…

Heredity of port-wine stains: investigation of families without a RASA1 mutation.

PubMed

Troilius Rubin, Agneta; Lauritzen, Edgar; Ljunggren, Bo; Revencu, Nicole; Vikkula, Mikka; Svensson, Åke

2015-01-01

The prevalence of capillary malformations, also known as port-wine stains (PWS), is 0.3%. Familial segregation can occur. The capillary malformation-arteriovenous malformation (CM-AVM) phenotype is caused by mutations in the RASA1 gene. In PWS familial cases, the inheritance is considered to be autosomal dominant with variable penetrance. Investigation of the heredity of PWS among patients who attended the vascular anomaly section at the Department of Dermatology in Malmoe, Southern Sweden, between 1993 and 2004 and to study the involvement of the RASA1 gene in patients with a positive family history of PWS. A total of 254 patients were examined and given a questionnaire regarding family history of PWS. The first group of 175 patients (109 females and 66 males) reported a negative family history. The other group of 65 patients (46 females and 19 males) reported a positive family history (50% parents or brothers and sisters). The heredity of PWS was 27% (65/240). Twenty-one patients with a positive family history and relatives had no CM-AVM phenotype for mutations in the RASA1 gene. PWS may have a stronger heredity component than it was reported earlier and inheritance should be considered when counseling a patient. RASA1 mutations do not explain the PWS in our patients.

Heredity before genetics: a history.

PubMed

Cobb, Matthew

2006-12-01

Two hundred years ago, biologists did not recognize that there was such a thing as 'heredity'. By the 1830s, however, insights from medicine and agriculture had indicated that something is passed from generation to generation, creating the context for the brilliant advances of Mendel and Darwin. Recent work on the history and philosophy of science has shed light on how seventeenth-, eighteenth- and nineteenth-century thinkers sought to understand similarities between parents and offspring.

The history of genetics in Mexico in the light of A Cultural History of Heredity.

PubMed

Barahona, Ana

2013-01-01

In this paper I analyze the conditions for scientific research and the social relationships that allowed the establishment of genetics in Mexico, in the laboratory, the clinic and in agronomy. I give three examples to illustrate how the cultural history of heredity has enlightened this work: the introduction and institutionalization of Mendelism in Mexico, the hereditarian ideas of medical doctors in the late nineteenth century, and the introduction of medical genetics in Mexico.

Adult CHD: the ongoing need for physician counselling about heredity and contraceptive options.

PubMed

Londono-Obregon, Camila; Goldmuntz, Elizabeth; Davey, Brooke T; Zhang, Xuemei; Slap, Gail B; Kim, Yuli Y

2017-05-01

Purpose Current guidelines recommend that patients with CHD receive age-appropriate counselling on reproduction, pregnancy, and risk of heredity. Our aim was to examine patient knowledge of reproductive health and explore the association between patient knowledge of CHD transmission risk and earlier physician counselling in adults with CHD. We performed a cross-sectional survey of patients with CHD aged 18 years and older in a paediatric hospital. Of the 100 patients who completed the questionnaire, most did not report counselling on heredity (66%) or contraception (71%). Of the 54 women, 25 (46%) identified their contraceptive options correctly; 42 (78%) women were classified as being at significantly increased risk for an adverse outcome during pregnancy, and of these 20 (48%) identified this risk correctly. Of all patients surveyed, 72% did not know that having CHD placed them at increased risk for having a child with CHD. On multivariate analysis, factors associated with correct knowledge about risk of recurrence were correct identification of CHD diagnosis (p=0.04) and patient-reported counselling (p=0.001). Knowledge about heredity, pregnancy risk, and contraceptive options is inadequate among adults with CHD followed-up in a paediatric subspecialty clinic. The majority of patients did not report a history of counselling about reproductive health. There is a strong correlation between history of counselling by the patient's cardiologist and correct knowledge about recurrence risk, suggesting that effective reproductive counselling can positively impact this knowledge gap.

Human genetics and politics as mutually beneficial resources: The case of the Kaiser Wilhelm Institute for Anthropology, Human Heredity and Eugenics during the Third Reich.

PubMed

Weiss, Sheila Faith

2006-01-01

This essay analyzes one of Germany's former premier research institutions for biomedical research, the Kaiser Wilhelm Institute for Anthropology, Human Heredity and Eugenics (KWIA) as a test case for the way in which politics and human heredity served as resources for each other during the Third Reich. Examining the KWIA from this perspective brings us a step closer to answering the questions at the heart of most recent scholarship concerning the biomedical community under the swastika: (1) How do we explain why the vast majority of German human geneticists and eugenicists were willing to work for the National Socialist state and, at the very least, legitimized its exterminationist racial policy; and (2) what accounts for at least some of Germany's most renowned medically trained professionals' involvement in forms of morally compromised science that wholly transcend the bounds of normal scientific practice? Although a complete answer to this question must await an examination of other German biological research centers, the present study suggests that during the Nazi period the symbiotic relationship between human genetics and politics served to radicalize both. The dynamic between the science of human heredity and Nazi politics changed the research practice of some of the biomedical sciences housed at the KWIA. It also simultaneously made it easier for the Nazi state to carry out its barbaric racial program leading, finally, to the extermination of millions of so-called racial undesirables.

The evolution of replicators.

PubMed Central

Szathmáry, E

2000-01-01

Replicators of interest in chemistry, biology and culture are briefly surveyed from a conceptual point of view. Systems with limited heredity have only a limited evolutionary potential because the number of available types is too low. Chemical cycles, such as the formose reaction, are holistic replicators since replication is not based on the successive addition of modules. Replicator networks consisting of catalytic molecules (such as reflexively autocatalytic sets of proteins, or reproducing lipid vesicles) are hypothetical ensemble replicators, and their functioning rests on attractors of their dynamics. Ensemble replicators suffer from the paradox of specificity: while their abstract feasibility seems to require a high number of molecular types, the harmful effect of side reactions calls for a small system size. No satisfactory solution to this problem is known. Phenotypic replicators do not pass on their genotypes, only some aspects of the phenotype are transmitted. Phenotypic replicators with limited heredity include genetic membranes, prions and simple memetic systems. Memes in human culture are unlimited hereditary, phenotypic replicators, based on language. The typical path of evolution goes from limited to unlimited heredity, and from attractor-based to modular (digital) replicators. PMID:11127914

The evolution of replicators.

PubMed

Szathmáry, E

2000-11-29

Replicators of interest in chemistry, biology and culture are briefly surveyed from a conceptual point of view. Systems with limited heredity have only a limited evolutionary potential because the number of available types is too low. Chemical cycles, such as the formose reaction, are holistic replicators since replication is not based on the successive addition of modules. Replicator networks consisting of catalytic molecules (such as reflexively autocatalytic sets of proteins, or reproducing lipid vesicles) are hypothetical ensemble replicators, and their functioning rests on attractors of their dynamics. Ensemble replicators suffer from the paradox of specificity: while their abstract feasibility seems to require a high number of molecular types, the harmful effect of side reactions calls for a small system size. No satisfactory solution to this problem is known. Phenotypic replicators do not pass on their genotypes, only some aspects of the phenotype are transmitted. Phenotypic replicators with limited heredity include genetic membranes, prions and simple memetic systems. Memes in human culture are unlimited hereditary, phenotypic replicators, based on language. The typical path of evolution goes from limited to unlimited heredity, and from attractor-based to modular (digital) replicators.

[Natural history and eighteenth-century ideas regarding generation and heredity: Buffon and Bonnet].

PubMed

Castañeda, L A

1995-01-01

The intellectual course of natural history reveals three conceptual approaches. The first was the taxonomic point of view, where naturalists worked to name and classify the living beings created by God. The second approach was provided by the eighteenth century's philosophical doctrine of mechanism, which lent natural history its method of endeavoring to comprehend the workings of organisms, inasmuch as the world "ran". Calling into question the adequacy of prior message, the third approach argued that living things display characteristics quite distinct from those of non-living matter, making it necessary to understand processes rather than simply decompose phenomena to then analyze them. This inadequacy became apparent at the moment when ideas of generation and heredity ascribed a reproductive history to living things, a history where the act of one fellow creature being formed by another plays an important role in coming to understand the workings of life. The paper analyzes these conceptual approaches from the perspective of Buffon's and Bonnet's ideas on reproduction and heredity, which represented opposite schools of thought: epigenesis and preformation.

Johannsen's criticism of the chromosome theory.

PubMed

Roll-Hansen, Nils

2014-01-01

The genotype theory of Wilhelm Johannsen (1857-1927) was an important contribution to the founding of classical genetics. This theory built on Johannsen's experimental demonstration that hereditary change is discontinuous, not continuous as had been widely assumed. Johannsen is also known for his criticism of traditional Darwinian evolution by natural selection, as well as his criticism of the classical Mendelian chromosome theory of heredity. He has often been seen as one of the anti-Darwinians that caused the "eclipse of Darwinism" in the early 20th century, before it was saved by the Modern Synthesis. This article focuses on Johannsen's criticism of the chromosome theory. He was indeed skeptical of the notion of the chromosomes as the sole carriers of heredity, but he praised the mapping of Mendelian genes on the chromosomes as a major step forward. Johannsen objected that these genes could not account for the whole of heredity, and that the stability of the genotype depended on much more than the stability of Mendelian genes. For Johannsen, the genotype, as a property of the whole organism, was the fundamental and empirically well-established entity.

Women as Mendelians and Geneticists

NASA Astrophysics Data System (ADS)

Richmond, Marsha L.

2015-01-01

After the rediscovery of Mendel's laws of heredity in 1900, the biologists who began studying heredity, variation, and evolution using the new Mendelian methodology—performing controlled hybrid crosses and statistically analyzing progeny to note the factorial basis of characters—made great progress. By 1910, the validity of Mendelism was widely recognized and the field William Bateson christened `genetics' was complemented by the chromosome theory of heredity of T. H. Morgan and his group in the United States. Historians, however, have largely overlooked an important factor in the early establishment of Mendelism and genetics: the large number of women who contributed to the various research groups. This article examines the social, economic, and disciplinary context behind this new wave of women's participation in science and describes the work of women Mendelians and geneticists employed at three leading experimental research institutes, 1900-1940. It argues that the key to more women working in science was the access to higher education and the receptivity of emerging interdisciplinary fields such as genetics to utilize the expertise of women workers, which not only advanced the discipline but also provided new opportunities for women's employment in science.

Heredity, reproduction, and perfectibility in revolutionary and Napoleonic France, 1789-1815.

PubMed

Quinlan, Sean

2010-12-01

During the French Revolution, there appeared a striking and far-ranging medical literature on heredity, reproduction and biological 'perfectibility'. In some ways anticipating ideas associated with modern eugenics, these writings emerged from radical revolutionary projects for 'physical and moral regeneration' and incarnated deep-seated desires to transform French society and make a 'new man' in mind and body. But by breaking down boundaries between public and private life, doctors did more than just try to regulate intimate sexual behaviour. Instead, they proffered a more intimate vision of civic volunteerism, in which sexual hygiene and domestic practices allowed their patients to imagine new forms of society and gave them ways to attain these socio-political dreams. Moreover, they were responding to powerful new worries about heredity and sought to counsel their patients in the ways of family panning. By the end of revolutionary period, then, medical and lay thinkers had transformed the marriage bed and household into a specially controlled environment - a kind of affective laboratory - in which conscientious parents could make healthy children and raise them in the context of specific political and social values. Copyright © 2010 Elsevier Ltd. All rights reserved.

Evolving concepts of heredity and genetics in orthodontics.

PubMed

Carlson, David S

2015-12-01

The field of genetics emerged from the study of heredity early in the 20th century. Since that time, genetics has progressed through a series of defined eras based on a number of major conceptual and technical advances. Orthodontics also progressed through a series of conceptual stages over the past 100 years based in part on the ongoing and often circular debate about the relative importance of heredity (nature) and the local environment (nurture) in the etiology and treatment of malocclusion and dentofacial deformities. During the past 20 years, significant advancements in understanding the genomic basis of craniofacial development and the gene variants associated with dentofacial deformities have resulted in a convergence of the principles and concepts in genetics and in orthodontics that will lead to significant advancement of orthodontic treatments. Fundamental concepts from genetics and applied translational research in orthodontics provide a foundation for a new emphasis on precision orthodontics, which will establish a modern genomic basis for major improvements in the treatment of malocclusion and dentofacial deformities as well as many other areas of concern to orthodontists through the assessment of gene variants on a patient-by-patient basis. Copyright © 2015 American Association of Orthodontists. Published by Elsevier Inc. All rights reserved.

Plants and Photosynthesis: Level III, Unit 3, Lesson 1; The Human Digestive System: Lesson 2; Functions of the Blood: Lesson 3; Human Circulation and Respiration: Lesson 4; Reproduction of a Single Cell: Lesson 5; Reproduction by Male and Female Cells: Lesson 6; The Human Reproductive System: Lesson 7; Genetics and Heredity: Lesson 8; The Nervous System: Lesson 9; The Glandular System: Lesson 10. Advanced General Education Program. A High School Self-Study Program.

ERIC Educational Resources Information Center

Manpower Administration (DOL), Washington, DC. Job Corps.

This self-study program for the high-school level contains lessons in the following subjects: Plants and Photosynthesis; The Human Digestive System; Functions of the Blood; Human Circulation and Respiration; Reproduction of a Single Cell; Reproduction by Male and Female Cells; The Human Reproductive System; Genetics and Heredity; The Nervous…

Darbishire expands his vision of heredity from Mendelian genetics to inherited memory.

PubMed

Wood, Roger J

2015-10-01

The British biologist A.D. Darbishire (1879-1915) responded to the rediscovery in 1900 of Mendel's theory of heredity by testing it experimentally, first in Oxford, then in Manchester and London. He summarised his conclusions in a textbook 'Breeding and the Mendelian Discovery' (1911), in which he questioned whether Mendelism alone could explain all aspects of practical breeding experience. Already he had begun to think about an alternative theory to give greater emphasis to the widely held conviction among breeders regarding the inheritance of characteristics acquired during an individual's life. Redefining heredity in terms of a germ-plasm based biological memory, he used vocabulary drawn partly from sources outside conventional science, including the metaphysical/vitalistic writings of Samuel Butler and Henri Bergson. An evolving hereditary memory fitted well with the conception of breeding as a creative art aimed at greater economic efficiency. For evolution beyond human control he proposed a self-modifying process, claiming it to surpass in efficiency the chancy mechanism of natural selection proposed by Darwin. From his writings, including early chapters of an unfinished book entitled 'An Introduction to a Biology', we consider how he reached these concepts and how they relate to later advances in understanding the genome and the genetic programme. Copyright © 2015 Elsevier Ltd. All rights reserved.

Human development, heredity and evolution.

PubMed

Nishinakamura, Ryuichi; Takasato, Minoru

2017-06-15

From March 27-29 2017, the RIKEN Center for Developmental Biology held a symposium entitled 'Towards Understanding Human Development, Heredity, and Evolution' in Kobe, Japan. Recent advances in technologies including stem cell culture, live imaging, single-cell approaches, next-generation sequencing and genome editing have led to an expansion in our knowledge of human development. Organized by Yoshiya Kawaguchi, Mitinori Saitou, Mototsugu Eiraku, Tomoya Kitajima, Fumio Matsuzaki, Takashi Tsuji and Edith Heard, the symposium covered a broad range of topics including human germline development, epigenetics, organogenesis and evolution. This Meeting Review provides a summary of this timely and exciting symposium, which has convinced us that we are moving into the era of science targeted on humans. © 2017. Published by The Company of Biologists Ltd.

Epigenetics: ambiguities and implications.

PubMed

Stotz, Karola; Griffiths, Paul

2016-12-01

Everyone has heard of 'epigenetics', but the term means different things to different researchers. Four important contemporary meanings are outlined in this paper. Epigenetics in its various senses has implications for development, heredity, and evolution, and also for medicine. Concerning development, it cements the vision of a reactive genome strongly coupled to its environment. Concerning heredity, both narrowly epigenetic and broader 'exogenetic' systems of inheritance play important roles in the construction of phenotypes. A thoroughly epigenetic model of development and evolution was Waddington's aim when he introduced the term 'epigenetics' in the 1940s, but it has taken the modern development of molecular epigenetics to realize this aim. In the final sections of the paper we briefly outline some further implications of epigenetics for medicine and for the nature/nurture debate.

How theories became knowledge: Morgan's chromosome theory of heredity in America and Britain.

PubMed

Brush, Stephen G

2002-01-01

T. H. Morgan, A. H. Sturtevant, H. J. Muller and C. B. Bridges published their comprehensive treatise The Mechanism of Mendelian Heredity in 1915. By 1920 Morgan's "Chromosome Theory of Heredity" was generally accepted by geneticists in the United States, and by British geneticists by 1925. By 1930 it had been incorporated into most general biology, botany, and zoology textbooks as established knowledge. In this paper, I examine the reasons why it was accepted as part of a series of comparative studies of theory-acceptance in the sciences. In this context it is of interest to look at the persuasiveness of confirmed novel predictions, a factor often regarded by philosophers of science as the most important way to justify a theory. Here it turns out to play a role in the decision of some geneticists to accept the theory, but is generally less important than the CTH's ability to explain Mendelian inheritance, sex-linked inheritance, non-disjunction, and the connection between linkage groups and the number of chromosome pairs; in other words, to establish a firm connection between genetics and cytology. It is remarkable that geneticists were willing to accept the CTH as applicable to all organisms at a time when it had been confirmed only for Drosophila. The construction of maps showing the location on the chromosomes of genes for specific characters was especially convincing for non-geneticists.

What Women Think: Cancer Causal Attributions in a Diverse Sample of Women

PubMed Central

Rodríguez, Vivian M.; Gyure, Maria E.; Corona, Rosalie; Bodurtha, Joann N.; Bowen, Deborah J.; Quillin, John M.

2014-01-01

Women hold diverse beliefs about cancer etiology, potentially affecting their use of cancer preventive behaviors. To date, research has greatly focused on the causal attributions cancer patients and survivors hold about cancer, and studies have been conducted primarily with White participants. Less is known about causal attributions held by women with and without a family history of cancer from a diverse community sample. This study sought to identify cancer causal attributions of women with and without a family history of cancer, and explore its relation to socio-cultural factors. Diverse women (60% African-American) recruited at an urban, safety-net women's health clinic (N=471) reported factors they believed cause cancer. Responses were coded into nine attributions and analyzed using chi-squares and logistic regressions. Lifestyle-choices (63%), genetics/heredity (34%), and environmental-exposures (19%) were the top causal attributions identified. Women without a family history of cancer were more likely to identify genetics/heredity as an attribution for cancer than women with a history of cancer in their families. Women who identified as White, who had a higher educational attainment, and had commercial insurance were more likely to report genetics/heredity as a causal attribution for cancer. These findings suggest that socio-cultural factors may play a role in the causal attributions individuals make about cancer, which can, in turn, inform cancer awareness and prevention messages. PMID:25398057

The many lives of experiments: Wilhelm Johannsen, selection, hybridization, and the complex relations of genes and characters.

PubMed

Meunier, Robert

2016-04-01

In addition to his experiments on selection in pure lines, Wilhelm Johannsen (1857-1927) performed less well-known hybridisation experiments with beans. This article describes these experiments and discusses Johannsen's motivations and interpretations, in the context of developments in early genetics. I will show that Johannsen first presented the hybridisation experiments as an additional control for his selection experiments. The latter were dedicated to investigating heredity with respect to debates concerning the significance of natural selection of continuous variation for evolution. In the course of the establishment of a Mendelian research program after 1900, the study of heredity gained increasing independence from questions of evolution, and focused more on the modes and mechanisms of heredity. Further to their role as control experiments, Johannsen also saw his hybridisation experiments as contributing to the Mendelian program, by extending the scope of the principles of Mendelian inheritance to quantitative characters. Towards the end of the first decade of genetics, Johannsen revisited his experiments to illustrate the many-many relationship between genes and characters, at a time when that relationship appeared increasingly complex, and the unit-character concept, accordingly, became inadequate. For the philosophy of science, the example shows that experiments can have multiple roles in a research programme, and can be interpreted in the light of questions other than those that motivated the experiments in the first place.

Retinitis Pigmentosa.

ERIC Educational Resources Information Center

Carr, Ronald E.

1979-01-01

The author describes the etiology of retinitis pigmentosa, a visual dysfunction which results from progressive loss of the retinal photoreceptors. Sections address signs and symptoms, ancillary findings, heredity, clinical diagnosis, therapy, and research. (SBH)

Restless Legs Syndrome

MedlinePlus

... caused by an imbalance of the brain chemical dopamine, which sends messages to control muscle movement. Heredity ... deficiency, often with anemia. When kidneys don't function properly, iron stores in your blood can decrease. ...

Glossary of MS Terms

MedlinePlus

... or placebo agent. The purpose of this research design is to avoid inadvertent bias of the test ... basic unit of heredity containing coded instructions for manufacturing a protein. Genes are subunits of chromosomes, which ...

The Classroom Animal.

ERIC Educational Resources Information Center

Kramer, David C.

1986-01-01

Provides background information for teachers on the physical and physiological characteristics of fruit flies. Explains their role and function in the study of heredity. Upholds their value as a manageable and safe laboratory animal. (ML)

Intelligence and the Nature-Nurture Conflict.

ERIC Educational Resources Information Center

Schmidt, Sandra Banik

1980-01-01

In a review of heredity v environment theories, the author concludes that no individual, regardless of potential, can approach the full development of his or her abilities without exposure to an enriched environment. (Editor/SJL)

Hair Loss

MedlinePlus

Hair loss Overview Hair loss can affect just your scalp or your entire body. It can be the result of heredity, hormonal changes, medical conditions or medications. Anyone can experience hair loss, but it's more common in men. Baldness ...

Chromosome Variations And Human Behavior

ERIC Educational Resources Information Center

Soudek, D.

1974-01-01

Article focused on the science of cytogenetics, which studied the transmission of the units of heredity called chromosomes, and considered the advantage of proper diagnosis of genetic diseases, treated on the chromosomal level. (Author/RK)

Genetics 101 --The Hereditary Material of Life

MedlinePlus

... of this page please turn Javascript on. Feature: Genetics 101 Genetics 101 — The Hereditary Material of Life Past Issues / Summer 2013 Table of Contents Genetics is the study of heredity, the process in ...

The evolutionary implications of epigenetic inheritance.

PubMed

Jablonka, Eva

2017-10-06

The Modern Evolutionary Synthesis (MS) forged in the mid-twentieth century was built on a notion of heredity that excluded soft inheritance, the inheritance of the effects of developmental modifications. However, the discovery of molecular mechanisms that generate random and developmentally induced epigenetic variations is leading to a broadening of the notion of biological heredity that has consequences for ideas about evolution. After presenting some old challenges to the MS that were raised, among others, by Karl Popper, I discuss recent research on epigenetic inheritance, which provides experimental and theoretical support for these challenges. There is now good evidence that epigenetic inheritance is ubiquitous and is involved in adaptive evolution and macroevolution. I argue that the many evolutionary consequences of epigenetic inheritance open up new research areas and require the extension of the evolutionary synthesis beyond the current neo-Darwinian model.

Heredity as transmission of information: Butlerian 'Intelligent Design.'.

PubMed

Forsdyke, Donald R

2006-01-01

In the 1870s, Ewald Hering and Samuel Butler provided what was, for that time, a scientifically coherent foundation for the Lamarckist view that positive adaptations to the environment acquired during an individual's lifetime can be transmitted to the offspring. Observing that heredity was a form of memory (involving stored information), they distinguished what are now known as genotype and phenotype and proposed that cognitive abilities present in the the most elementary organisms might mediate a transmission of acquired adaptations. While compatible with the then-available facts of evolution, this Butlerian version of 'intelligent design' was rendered less credible by subsequent appreciations of the discrete (discontinuous) inheritance of many phenotypic characters (Mendelism) and of the separation of germ line from soma (Weismanism). However, it can now be seen that 21st-century bioinformatics has 19th-century roots.

[Summary of results of a study of heredity of intelligence in a sample of the Czech population. III. Longitudinal and genealogic study of twins and their families].

PubMed

Drábková, H

1993-06-01

The author presents further results of the longitudinal study of inheritance of intelligence, its components and structure in twins. Summarized results are presented for the age period from 0-15 years as well as detailed results of individual components and the global IQ in the age group of 8-15 years. The paper follows after two previous ones published in 1988 where the applied methods and statistical evaluation were described. Evidence was provided that heredity of intelligence is involved in children from a very early age, i.e. 0-3 years. After the age of 4 heredity predominates markedly over environmental influences up to the age of 15 years investigated so far by the author. (A slight decline occurs during the prepubertal period-age 13 and 14 years.) The author found that in particular the following components of intellect are inborn: abstract thinking, logic, talent for mathematics, concentration, inquisitiveness. Very detailed tables are presented for possible comparison with data in the literature and data from adults. The author found that the development of intelligence from childhood to adult age is very irregular. This uneven character is also mostly inborn. Statistical evaluation revealed several basic types of developmental curves and extreme variants. This will, however, be discussed in another paper. The theoretical results can be used also in practice in school education, counselling psychologic and psychiatric out-patient departments.

Diagnostics of and Specific Hyposensitization to Pollen Rhinopathy (Hay Fever),

DTIC Science & Technology

Patients (120 in all) were studied for precise diagnosis of pollen rhinopathy. Among them aggravated allergic heredity was revealed in 63% of cases; a positive allergological anamnesis was noted in 55% of cases.

Misinterpretations of Piaget's Theory.

ERIC Educational Resources Information Center

Wadsworth, Barry

1981-01-01

Refutes six common misconceptions about Piaget's theories, including their educational implications; Piaget's position on heredity v environment; and the relationships between developmental stages, age, and brain growth spurts. Condensed from "Impact on Instructional Improvement", Winter 1981, p7-11. (SJL)

The holist tradition in twentieth century genetics. Wilhelm Johannsen's genotype concept

PubMed Central

Roll-Hansen, Nils

2014-01-01

The terms ‘genotype’, ‘phenotype’ and ‘gene’ originally had a different meaning from that in the Modern Synthesis. These terms were coined in the first decade of the twentieth century by the Danish plant physiologist Wilhelm Johannsen. His bean selection experiment and his theoretical analysis of the difference between genotype and phenotype were important inputs to the formation of genetics as a well-defined special discipline. This paper shows how Johannsen's holistic genotype theory provided a platform for criticism of narrowly genocentric versions of the chromosome theory of heredity that came to dominate genetics in the middle decades of the twentieth century. Johannsen came to recognize the epoch-making importance of the work done by the Drosophila group, but he continued to insist on the incompleteness of the chromosome theory. Genes of the kind that they mapped on the chromosomes could only give a partial explanation of biological heredity and evolution. PMID:24882823

Consciousness, social heredity, and development: the evolutionary thought of James Mark Baldwin.

PubMed

Wozniak, Robert H

2009-01-01

James Mark Baldwin is one of the most important and least known early American scientific psychologists. Drawing inspiration from Charles Darwin and other evolutionists of the period, Baldwin developed a biosocial theory of psychological development that influenced both Jean Piaget and Lev S. Vygotsky; and he proposed a mechanism relating learned adaptations in the individual to phylogenesis (frequently termed the "Baldwin effect") that is of considerable interest to those currently modeling processes of learning and evolution. After a brief introduction to Baldwin's career, this article describes the intellectual context within which his evolutionary thinking developed. Three of his most important contributions are then discussed: his theory of individual adaptation or learning, his concept of "social heredity," and his articulation of the "Baldwin effect." The article concludes with a brief evaluation of the contemporary importance of Baldwin's ideas. 2009 APA, all rights reserved

The changing concept of epigenetics.

PubMed

Jablonka, Eva; Lamb, Marion J

2002-12-01

We discuss the changing use of epigenetics, a term coined by Conrad Waddington in the 1940s, and how the epigenetic approach to development differs from the genetic approach. Originally, epigenetics referred to the study of the way genes and their products bring the phenotype into being. Today, it is primarily concerned with the mechanisms through which cells become committed to a particular form or function and through which that functional or structural state is then transmitted in cell lineages. We argue that modern epigenetics is important not only because it has practical significance for medicine, agriculture, and species conservation, but also because it has implications for the way in which we should view heredity and evolution. In particular, recognizing that there are epigenetic inheritance systems through which non-DNA variations can be transmitted in cell and organismal lineages broadens the concept of heredity and challenges the widely accepted gene-centered neo-Darwinian version of Darwinism.

On the association between glioma, wireless phones, heredity and ionising radiation.

PubMed

Carlberg, Michael; Hardell, Lennart

2012-09-01

We performed two case-control studies on brain tumours diagnosed during 1 January 1997 to 30 June 2000 and 1 July 2000 to 31 December 2003, respectively. Living cases and controls aged 20-80 years were included. An additional study was performed on deceased cases with a malignant brain tumour using deceased controls. Pooled results for glioma yielded for ipsilateral use of mobile phone odds ratio (OR)=2.9, 95% confidence interval (CI)=1.8-4.7 in the >10 years latency group. The corresponding result for cordless phone was OR=3.8, 95% CI=1.8-8.1. OR increased statistically significant for cumulative use of wireless phones per 100h and per year of latency. For high-grade glioma ipsilateral use of mobile phone gave OR=3.9, 95% CI=2.3-6.6 and cordless phone OR=5.5, 95% CI=2.3-13 in the >10 years latency group. Heredity for brain tumour gave OR=3.4, 95% CI=2.1-5.5 for glioma. There was no interaction with use of wireless phones. X-ray investigation of the head gave overall OR=1.3, 95% CI=1.1-1.7 for glioma without interaction with use of wireless phones or heredity. In conclusion use of mobile and cordless phone increased the risk for glioma with highest OR for ipsilateral use, latency >10 years and third tertile of cumulative use in hours. In total, the risk was highest in the age group <20 years for first use of a wireless phone. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Limits of imagination: the 150th Anniversary of Mendel's Laws, and why Mendel failed to see the importance of his discovery for Darwin's theory of evolution.

PubMed

Singh, Rama S

2015-09-01

Mendel is credited for discovering Laws of Heredity, but his work has come under criticism on three grounds: for possible falsification of data to fit his expectations, for getting undue credit for the laws of heredity without having ideas of segregation and independent assortment, and for being interested in the development of hybrids rather than in the laws of heredity. I present a brief review of these criticisms and conclude that Mendel deserved to be called the father of genetics even if he may not, and most likely did not, have clear ideas of segregation and particulate determiners as we know them now. I argue that neither Mendel understood the evolutionary significance of his findings for the problem of genetic variation, nor would Darwin have understood their significance had he read Mendel's paper. I argue that the limits to imagination, in both cases, came from their mental framework being shaped by existing paradigms-blending inheritance in the case of Darwin, hybrid development in the case of Mendel. Like Einstein, Darwin's natural selection was deterministic; like Niels Bohr, Mendel's Laws were probabilistic-based on random segregation of trait-determining "factors". Unlike Einstein who understood quantum mechanics, Darwin would have been at a loss with Mendel's paper with no guide to turn to. Geniuses in their imaginations are like heat-seeking missiles locked-in with their targets of deep interests and they generally see things in one dimension only. Imagination has limits; unaided imagination is like a bird without wings--it goes nowhere.

Mental Retardation: Past, Present and Future

ERIC Educational Resources Information Center

Crissey, Marie Skodak

1975-01-01

Notes that two developments had major impacts on policies towards the mentally retarded between the 1880s and the 1920s: (1) the swing toward the eugenics-heredity-genetics movement, and (2) the development of individual intelligence testing. (Author/JM)

Crime and Child-Rearing.

ERIC Educational Resources Information Center

Roth, Byron M.

1996-01-01

Examines the notion that heredity plays a powerful role in criminal behavior, including genetic evidence that can allow for antisocial behavior. Reviews suggestions for reversing rising crime rates in light of the hereditary connection, policy development, family cohesion, and child raising. (GR)

Human Growth and Development.

ERIC Educational Resources Information Center

Whitehurst, Keturah E.

This brief overview of some aspects of human development aims to enable paraprofessionals (teachers' aides) to work with teachers and children with greater understanding and effectiveness. Aspects discussed include heredity, IQ scores and learning ability assessment, principles of development, and principles of learning. (ED)

"Counseling" in Ophthalmology.

ERIC Educational Resources Information Center

Francois, J.

1976-01-01

The need to counsel patients with genetic ophthalmological problems is stressed in the article. Assessment of autosomal dominance or autosomal recessitivity in an individual is explained and sex-linked heredity is traced. Practical examples of genetic abnormalities, such as pigmentary retinopathy and chorodineremia, are discussed. (PHR)

Hormones & growth regulators can be useful to foresters

Treesearch

Albert G., Jr. Snow

1959-01-01

Trees, like other plants, contain many natural chemicals of the sort that we call hormones. Research is gradually revealing that, in the behavior of a tree, these chemicals may be almost as important as the basic influences of heredity and environment.

Cardiovascular Risk Reduction. The Problems Facing Our Society.

ERIC Educational Resources Information Center

Harrison, Donald C.; Winston, Mary

1982-01-01

Continued and expanded efforts to educate people as to what factors contribute to coronary heart disease will help to decrease its occurrence. Risk factors include: cholesterol, smoking, hypertension, obesity, heredity, psychological influences, and the taking of oral contraceptives or alcohol. (CJ)

The Health Curriculum: 500 Topics.

ERIC Educational Resources Information Center

Byrd, Oliver E.

2001-01-01

This 1958 paper divides 500 health topics into 20 categories: health as a social accomplishment/social problem; nutrition; physical fitness; mental health and disease; heredity/eugenics; infection/immunity; chronic and degenerative disease; substance abuse; skin care; vision, hearing, and speech; dental health; safety; physical environment; health…

High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling.

PubMed

Sie, Aisha S; Spruijt, Liesbeth; van Zelst-Stams, Wendy A G; Mensenkamp, Arjen R; Ligtenberg, Marjolijn J L; Brunner, Han G; Prins, Judith B; Hoogerbrugge, Nicoline

2016-06-01

According to standard practice following referral to clinical genetics, most high risk breast cancer (BC) patients in many countries receive face-to-face genetic counseling prior to BRCA-mutation testing (DNA-intake). We evaluated a novel format by prospective study: replacing the intake consultation with telephone, written and digital information sent home. Face-to-face counseling then followed BRCA-mutation testing (DNA-direct). One year after BRCA-result disclosure, 108 participants returned long-term follow-up questionnaires, of whom 59 (55 %) had previously chosen DNA-direct (intervention) versus DNA-intake (standard practice i.e., control: 45 %). Questionnaires assessed satisfaction and psychological distress. All participants were satisfied and 85 % of DNA-direct participants would choose this procedure again; 10 % would prefer DNA-intake and 5 % were undecided. In repeated measurements ANOVA, general distress (GHQ-12, p = 0.01) and BC-specific distress (IES-bc, p = 0.03) were lower in DNA-direct than DNA-intake at all time measurements. Heredity-specific distress (IES-her) did not differ significantly between groups. Multivariate regression analyses showed that choice of procedure did not significantly contribute to either general or heredity-specific distress. BC-specific distress (after BC diagnosis) did contribute to both general and heredity-specific distress. This suggests that higher distress scores reflected BC experience, rather than the type of genetic diagnostic procedure. In conclusion, the large majority of BC patients that used DNA-direct reported high satisfaction without increased distress both in the short term, and 1 year after conclusion of genetic testing.

William Keith Brooks and the naturalist's defense of Darwinism in the late-nineteenth century.

PubMed

Nash, Richard

2015-06-01

William Keith Brooks was an American zoologist at Johns Hopkins University from 1876 until his death in 1908. Over the course of his career, Brooks staunchly defended Darwinism, arguing for the centrality of natural selection in evolutionary theory at a time when alternative theories, such as neo-Lamarckism, grew prominent in American biology. In his book The Law of Heredity (1883), Brooks addressed problems raised by Darwin's theory of pangenesis. In modifying and developing Darwin's pangenesis, Brooks proposed a new theory of heredity that sought to avoid the pitfalls of Darwin's hypothesis. In so doing he strengthened Darwin's theory of natural selection by undermining arguments for the inheritance of acquired characteristics. In later attacks on neo-Lamarckism, Brooks consistently defended Darwin's theory of natural selection on logical grounds, continued to challenge the idea of the inheritance of acquired characteristics, and argued that natural selection best explained a wide range of adaptations. Finally, he critiqued Galton's statistical view of heredity and argued that Galton had resurrected an outmoded typological concept of species, one which Darwin and other naturalists had shown to be incorrect. Brooks's ideas resemble the "biological species concept" of the twentieth century, as developed by evolutionary biologist Ernst Mayr and others. The late-nineteenth century was not a period of total "eclipse" of Darwinism, as biologists and historians have hitherto seen it. Although the "Modern Synthesis" refers to the reconciliation of post-Mendelian genetics with evolution by natural selection, we might adjust our understanding of how the synthesis developed by seeing it as the culmination of a longer discussion that extends back to the late-nineteenth century.

From Mendel's discovery on pea to today's plant genetics and breeding : Commemorating the 150th anniversary of the reading of Mendel's discovery.

PubMed

Smýkal, Petr; K Varshney, Rajeev; K Singh, Vikas; Coyne, Clarice J; Domoney, Claire; Kejnovský, Eduard; Warkentin, Thomas

2016-12-01

This work discusses several selected topics of plant genetics and breeding in relation to the 150th anniversary of the seminal work of Gregor Johann Mendel. In 2015, we celebrated the 150th anniversary of the presentation of the seminal work of Gregor Johann Mendel. While Darwin's theory of evolution was based on differential survival and differential reproductive success, Mendel's theory of heredity relies on equality and stability throughout all stages of the life cycle. Darwin's concepts were continuous variation and "soft" heredity; Mendel espoused discontinuous variation and "hard" heredity. Thus, the combination of Mendelian genetics with Darwin's theory of natural selection was the process that resulted in the modern synthesis of evolutionary biology. Although biology, genetics, and genomics have been revolutionized in recent years, modern genetics will forever rely on simple principles founded on pea breeding using seven single gene characters. Purposeful use of mutants to study gene function is one of the essential tools of modern genetics. Today, over 100 plant species genomes have been sequenced. Mapping populations and their use in segregation of molecular markers and marker-trait association to map and isolate genes, were developed on the basis of Mendel's work. Genome-wide or genomic selection is a recent approach for the development of improved breeding lines. The analysis of complex traits has been enhanced by high-throughput phenotyping and developments in statistical and modeling methods for the analysis of phenotypic data. Introgression of novel alleles from landraces and wild relatives widens genetic diversity and improves traits; transgenic methodologies allow for the introduction of novel genes from diverse sources, and gene editing approaches offer possibilities to manipulate gene in a precise manner.

Eugenics and Curriculum: 1860-1929.

ERIC Educational Resources Information Center

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…

Chromonoodles: Jump into the Gene Pool

ERIC Educational Resources Information Center

Farrar, Jennifer; Barnhart, Kelsi

2011-01-01

Chromosomes, alleles, chromatids, genotype, phenotype, mitosis, meiosis, fertilization--this vocabulary can be overwhelming, confusing, and difficult for students to tie together. However, since these terms are commonplace in the high school biology classroom, and are the basis for understanding both DNA and heredity, students must understand…

Assessment in a Pluralistic Society.

ERIC Educational Resources Information Center

Educational Testing Service, Princeton, NJ.

Robert L. Thorndike was awarded the Educational Testing Service (ETS) Measurement Award at the 1972 ETS Invitational Conference. In "Heredity, Environment, and Class or Ethnic Differences," J. McV. Hunt addressed several fundamental questions pertaining to the hereditary and environmental influences of the observed social class and ethnic…

Heredity Factors in Spatial Visualization.

ERIC Educational Resources Information Center

Vandenberg, S. G.

Spatial visualization is not yet clearly understood. Some researchers have concluded that two factors or abilities are involved, spatial orientation and spatial visualization. Different definitions and different tests have been proposed for these two abilities. Several studies indicate that women generally perform more poorly on spatial tests than…

Genetic Screening: A Unique Game of Survival

ERIC Educational Resources Information Center

Kurvink, Karen; Bowser, Jessica

2004-01-01

A creative learning game that helps students reinforce basic genetic information and facilitate the identification and understanding of the more subtle issues is presented. The basic framework of the game was conceived by a business major taking non-biology major course 'heredity and society-intertwining legacy.

Nature Loves Nurture.

ERIC Educational Resources Information Center

Thurber, Christopher A.

2003-01-01

Three studies of how heredity and environment affect child development are described. Suggestions for applying this knowledge to the management of camper behavior include asking about a child's environment on the camp health form, consulting parents and professionals about a child's behavior, providing loving and safe consequences, and making camp…

The Learning Needs of Children.

ERIC Educational Resources Information Center

Taylor, Mary; Sister Valerie

1990-01-01

The child's psychosocial and physiological development are discussed in terms of a limiting environment and program expectations. Some factors to consider are (1) heredity and heritage; (2) experience; (3) maturation; (4) social transmission; and (5) equilibration. Sensitive educators must prepare the environment for the child, not for the…

[Sex-linked juvenile retinoschisis].

PubMed

François, P; Turut, P; Soltysik, C; Hache, J C

1976-02-01

About 13 observations of sexe linked juvenile retinoschisis, the authors describe the ophthalmoscopic, fluorographic and functional aspects of the disease whose caracteristics are:--its sexe linked recessive heredity; --its clinical characterestics associating: a microcystic macular degeneration, peripheral retinal lesions, vitreous body alterations, --an electroretinogram of the negative type.

Practical animal breeding as the key to an integrated view of genetics, eugenics and evolutionary theory: Arend L. Hagedoorn (1885-1953).

PubMed

Theunissen, Bert

2014-06-01

In the history of genetics Arend Hagedoorn (1885-1953) is mainly known for the 'Hagedoorn effect', which states that part of the changes in variability that populations undergo over time are due to chance effects. Leaving this contribution aside, Hagedoorn's work has received scarcely any attention from historians. This is mainly due to the fact that Hagedoorn was an expert in animal breeding, a field that historians have only recently begun to explore. His work provides an example of how a prominent geneticist envisaged animal breeding to be reformed by the new science of heredity. Hagedoorn, a pupil of Hugo de Vries, tried to integrate his insights as a Mendelian geneticist and an animal breeding expert in a unified view of heredity, eugenics and evolution. In this paper I aim to elucidate how these fields were connected in Hagedoorn's work. Copyright © 2014 Elsevier Ltd. All rights reserved.

Eugenics and public health in American history.

PubMed

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 and public health in American history.

PubMed Central

Pernick, M S

1997-01-01

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. PMID:9366633

The holist tradition in twentieth century genetics. Wilhelm Johannsen's genotype concept.

PubMed

Roll-Hansen, Nils

2014-06-01

The terms 'genotype', 'phenotype' and 'gene' originally had a different meaning from that in the Modern Synthesis. These terms were coined in the first decade of the twentieth century by the Danish plant physiologist Wilhelm Johannsen. His bean selection experiment and his theoretical analysis of the difference between genotype and phenotype were important inputs to the formation of genetics as a well-defined special discipline. This paper shows how Johannsen's holistic genotype theory provided a platform for criticism of narrowly genocentric versions of the chromosome theory of heredity that came to dominate genetics in the middle decades of the twentieth century. Johannsen came to recognize the epoch-making importance of the work done by the Drosophila group, but he continued to insist on the incompleteness of the chromosome theory. Genes of the kind that they mapped on the chromosomes could only give a partial explanation of biological heredity and evolution. © 2014 The Author. The Journal of Physiology © 2014 The Physiological Society.

Why the Rediscoverer Ended up on the Sidelines: Hugo De Vries's Theory of Inheritance and the Mendelian Laws

NASA Astrophysics Data System (ADS)

Stamhuis, Ida H.

2015-01-01

Eleven years before the `rediscovery' in 1900 of Mendel's work, Hugo De Vries published his theory of heredity. He expected his theory to become a big success, but it was not well-received. To find supporting evidence for this theory De Vries started an extensive research program. Because of the parallels of his ideas with the Mendelian laws and because of his use of statistics, he became one of the rediscoverers. However, the Mendelian laws, which soon became the foundation of a new discipline of genetics, presented a problem. De Vries was the only one of the early Mendelians who had developed his own theory of heredity. His theory could not be brought in line with the Mendelian laws. But because his original theory was still very dear to him, something important was at stake and he was unwilling to adapt his ideas to the new situation. He belittled the importance of the Mendelian laws and ended up on the sidelines.

Parameter determination of hereditary models of deformation of composite materials based on identification method

NASA Astrophysics Data System (ADS)

Kayumov, R. A.; Muhamedova, I. Z.; Tazyukov, B. F.; Shakirzjanov, F. R.

2018-03-01

In this paper, based on the analysis of some experimental data, a study and selection of hereditary models of deformation of reinforced polymeric composite materials, such as organic plastic, carbon plastic and a matrix of film-fabric composite, was pursued. On the basis of an analysis of a series of experiments it has been established that organo-plastic samples behave like viscoelastic bodies. It is shown that for sufficiently large load levels, the behavior of the material in question should be described by the relations of the nonlinear theory of heredity. An attempt to describe the process of deformation by means of linear relations of the theory of heredity leads to large discrepancies between the experimental and calculated deformation values. The use of the theory of accumulation of micro-damages leads to much better description of the experimental results. With the help of the hierarchical approach, a good approximation of the experimental values was successful only in the first three sections of loading.

Structural heredity influence upon principles of strain wave hardening

NASA Astrophysics Data System (ADS)

Kiricheck, A. V.; Barinov, S. V.; Yashin, A. V.

2017-02-01

It was established experimentally that by penetration of a strain wave through material hardened not only the technological modes of processing, but also a technological heredity - the direction of the fibers of the original macrostructure have an influence upon the diagram of microhardness. By penetration of the strain wave along fibers, the degree of hardening the material is less, however, a product is hardened throughout its entire section mainly along fibers. In the direction of the strain waves across fibers of the original structure of material, the degree of material hardening is much higher, the depth of the hardened layer with the degree of hardening not less than 50% makes at least 3 mm. It was found that under certain conditions the strain wave can completely change the original structure of the material. Thus, a heterogeneously hardened structure characterized by the interchange of harder and more viscous areas is formed, which is beneficial for assurance of high operational properties of material.

The Schockley-Jensen Thesis: A Contextual Appraisal

ERIC Educational Resources Information Center

X, Cedric (Clark)

1975-01-01

Discusses three hypotheses which have been posed as possible explanations for the contemporary and historical interest which certain white thinkers have had in black intelligence -- the religious anchor hypothesis, the genetic jealousy hypothesis, and the mental deficiency hypothesis -- as well as the environment versus heredity paradigm.…

Heredity and Environment in the Development of Intelligence

ERIC Educational Resources Information Center

Migliorino, Giuseppe

1974-01-01

Intelligence tests were administered to a stratified sample of 4058 school children from Palermo, Sicily. I.Q. scores were found to be positively correlated with socioeconomic status and negatively related to family size. As birth order increased, mental development decreased. Implications for future research were discussed. (EH)

Puzzling Out the Cell's Power Plant.

ERIC Educational Resources Information Center

Miller, Julie Ann

1979-01-01

The biological research, of Gottfried Schatz at the University of Basel and Gunter Blobel at Rockefeller University, which explains a mechanism by which mitochondrial proteins are transported across membranes is described. Results indicate that the construction and heredity of mitochondria have surprising differences from other cell processes. (BT)

Populations, Natural Selection, and Applied Organizational Science.

ERIC Educational Resources Information Center

McKelvey, Bill; Aldrich, Howard

1983-01-01

Deficiencies in existing models in organizational science may be remedied by applying the population approach, with its concepts of taxonomy, classification, evolution, and population ecology; and natural selection theory, with its principles of variation, natural selection, heredity, and struggle for existence, to the idea of organizational forms…

Antisocial Children: Why?

ERIC Educational Resources Information Center

Blai, Boris, Jr.

The paper examines the causes of violent and other antisocial behavior in children. Considered are the effects of heredity and environment, and the nature and prevalence of learning disabilities in persons with antisocial behavior are noted. Effects of temperament and its relationship to stress are discussed. The author cites findings on potential…

Genetic control of chromosome behaviour: Implications in evolution, crop improvement, and human biology

USDA-ARS?s Scientific Manuscript database

Chromosomes and chromosome pairing are pivotal to all biological sciences. The study of chromosomes helps unravel several aspects of an organism. Although the foundation of genetics occurred with the formulation of the laws of heredity in 1865, long before the discovery of chromosomes, their subsequ...

Playing Scientist

ERIC Educational Resources Information Center

Campbell, Ashley

2012-01-01

Engaging students in the study of genetics is essential to building a deep understanding of heredity, a core idea in the life sciences (NRC 2012). By integrating into the curriculum the stories of famous scientists who studied genetics (e.g., Mendel, Franklin, Watson, and Crick), teachers remind their students that science is a human endeavor.…

Some Aspects of Mental Retardation. A Training Guide for the Vocational Rehabilitation Counselor. Final Report.

ERIC Educational Resources Information Center

Phelps, William R.

Presented for vocational counselors is an overview of mental retardation, including the definition, and etiology. Described are the prenatal factors of heredity (including familial retardation and cranial anomalies), infections (including syphilis and encephalitis), radiation, blood group incompatibility, and unknown or variable etiological…

Re-Thinking Intelligence: Schools That Build the Mind

ERIC Educational Resources Information Center

Resnick, Lauren B.; Schantz, Faith

2015-01-01

We now understand that human intelligence, once thought to be determined almost solely by heredity, is malleable. In developed countries, average intelligence test scores have increased substantially since the tests began to be administered 100 years ago. In school settings, however, intelligence is often still treated as a fixed attribute that…

Who Was Deborah Kallikak?

ERIC Educational Resources Information Center

Smith, J. David; Wehmeyer, Michael L.

2012-01-01

"The Kallikak Family" was, along with "The Jukes: A Study in Crime, Pauperism, Disease, and Heredity", one of the most visible eugenic family narratives published in the early 20th century. Published in 1912 and authored by psychologist Henry Herbert Goddard, director of the psychological laboratory at the Vineland Training School for Feebleminded…

An Introduction to Heredity: Part 1

ERIC Educational Resources Information Center

Powell, Britnie; Malone, Molly; Drits-Esser, Dina; Stark, Louisa A.

2018-01-01

The mechanics by which unique individuals are built from the instructions encoded in DNA is too advanced for elementary-age children. However, students can easily understand that organisms have observable traits and that each individual has a unique combination of traits, ideas that are included in the "Next Generation Science Standards"…

The "Lethal Chamber": Further Evidence of the Euthanasia Option.

ERIC Educational Resources Information Center

Elks, Martin A.

1993-01-01

Historical discussions of the euthanasia or "lethal chamber" option in relation to people with mental retardation are presented. The paper concludes that eugenic beliefs in the primacy of heredity over environment and the positive role of natural selection may have condoned the poor conditions characteristic of large, segregated institutions and…

Elementary Health Education Guide to Better Health.

ERIC Educational Resources Information Center

Washington Office of the State Superintendent of Public Instruction, Olympia.

This curriculum guide for the elementary school portion of a K-12 health education program contains notes on eleven areas: Alcohol, Anatomy and Physiology, Community Health, Consumer Health, Dental Health, Disease Control, Family Health, Heredity and Environment, Mental Health, Nutrition, and Safety Education. The notes on each area contain a…

Revised Guidelines for Comprehensive Health Education, Grades 10-12.

ERIC Educational Resources Information Center

Nebraska State Dept. of Education, Lincoln. Div. of Instructional Services.

These health curriculum guidelines were designed for teachers of secondary students. Four major topic areas are covered: 1) anatomy, physiology, tissues, systems, heredity, physical activity, and nutriition; 2) family structures, functions, and responsibilities; 3) values, stress, and drug abuse; and 4) the environment, disease control, cancer,…

What Does Culture Have to Do with Teaching Science?

ERIC Educational Resources Information Center

Madden, Lauren; Joshi, Arti

2013-01-01

In nearly every elementary school, plants are an important part of the science curriculum. Understanding basic ideas about plants prepares children to study more complicated scientific concepts including cell biology, genetics and heredity, complex ecosystem interactions, and evolution. It is especially important that teachers of children at the…

Child Development and Curriculum in Waldorf Education.

ERIC Educational Resources Information Center

Schmitt-Stegmann, Astrid

Every educational theory has behind it a particular image of human beings and their development that supports a particular view of the learning process. This paper examines the image of children underlying Waldorf education. The paper identifies the individual and unique Self as the "third factor," that together with heredity and…

Strategies for Educational Equality [and] Comments on Torsten Husen's Paper.

ERIC Educational Resources Information Center

Husen, Torsten

Among the issues discussed are the following: whether education is the great equalizer or the great slave, equality of opportunity and equality of results, conservative, liberal, and redemptive conceptions of educational equality, the heredity-environment issue, the causes of educational inequality, incompatibilities and dilemmas of equalization,…

Career and Vocational Education. Concepts of Health Management System.

ERIC Educational Resources Information Center

Larson, Curtis G.; Fiedler, Beatrice

This curriculum guide is designed to assist students in developing the ability to understand the many aspects of personal/social/mental health. It emphasizes student performance objectives in physical well-being, disease, reproduction, heredity, mental health and aging. It is also designed to assist the local teacher with organization and…

Hearing-Impaired Children under Age 6: 1977 and 1984.

ERIC Educational Resources Information Center

Schildroth, Arthur

1986-01-01

A review of annual survey data revealed that hearing impaired children under age 6 reported in 1984, when compared to those reported in 1977, tended to be younger; had higher percentages of heredity, meningitis, and prematurity as causes of hearing loss; and were more likely to have additional handicaps. (CL)

Siblings and Mental Illness: Heredity vs. Environment.

ERIC Educational Resources Information Center

Rowe, David C.; Elam, Patricia

1987-01-01

Siblings are far more likely to be different than alike in personality and psychopathology. Different genes and different environmental experiences can account for why one sibling becomes mentally ill and another is not affected. Environmental experiences play a much greater role in sibling differentiation than has been previously recognized.…

A Note on the Heritability of Memory Span.

ERIC Educational Resources Information Center

Jensen, Arthur R.; Marisi, Daniel Q.

The contribution of heredity to scores on a digit span intelligence test, Jensen's Memory for Numbers, was estimated with a standard heritability formula. The test measures level I mental ability--the capacity to store and recall, but not ability to elaborate or manipulate stimuli. Subjects were 35 monozygotic (MZ) twins and 35 same-sex dizygotic…

Consciousness, Social Heredity, and Development: The Evolutionary Thought of James Mark Baldwin

ERIC Educational Resources Information Center

Wozniak, Robert H.

2009-01-01

James Mark Baldwin is one of the most important and least known early American scientific psychologists. Drawing inspiration from Charles Darwin and other evolutionists of the period, Baldwin developed a biosocial theory of psychological development that influenced both Jean Piaget and Lev S. Vygotsky; and he proposed a mechanism relating learned…

A Socratic Method for Surveying Students' Readiness to Study Evolution

ERIC Educational Resources Information Center

Stansfield, William D.

2013-01-01

Before beginning a series of presentations on evolution, it would be prudent to survey the general level of students' understanding of prerequisite basic concepts of reproduction, heredity, ontology, and phenotypic diversity so that teachers can avoid devoting time to well-known subjects of general knowledge and can spend more time on subjects…

Genes, Seizures & Epilepsy

ERIC Educational Resources Information Center

Goldman, Alica M.

2006-01-01

The chance that someone will develop any disease is influenced by heredity and environment. Epilepsy is not an exception. Everybody inherits a unique degree of susceptibility to seizures. About 3 percent of the United States population is prone to seizures and will get epilepsy at some point of their lives (1). Two thirds of the people with…

A New Hope? Overcoming the Limitations of Effects-Based Operations

DTIC Science & Technology

2007-05-10

sway. Nor does the equation of a “Warlord” to a Junta government apply because often the “Warlord” is the head of a tribe through heredity or has...operations. More communities without power give rise to a greater disenfranchised population. In considering power plants as a target to 12

The Allusion of the Gene: Misunderstandings of the Concepts Heredity and Gene

ERIC Educational Resources Information Center

Falk, Raphael

2014-01-01

Life sciences became Biology, a formal scientific discipline, at the turn of the nineteenth century, when it adopted the methods of reductive physics and chemistry. Mendel's hypothesis of inheritance of discrete factors further introduced a quantitative reductionist dimension into biology. In 1910 Johannsen differentiated between the…

Science, Politics, and the IQ Controversy.

ERIC Educational Resources Information Center

Snyderman, Mark; Rothman, Stanley

1986-01-01

The controversy over intelligence testing is more often influenced by political considerations than empirical research. A survey of 1,020 experts found that a majority agree that (1) intelligence can be defined; (2) heredity plays a role in individual and group IQ differences; and (3) intelligence testing in schools should continue at its present…

"Intelligence Testing and Minority Students: Foundations, Performance Factors, and Assessment Issues" [book review].

ERIC Educational Resources Information Center

Jensen, Arthur R.

2002-01-01

This book focuses on topics germane to cognitive abilities viewed from a "minority psychology" perspective. The most contentious chapters concern test bias and heredity, with culture, socioeconomic status, and case viewed as the chief explanations for test score differences between social classes and racial and ethnic groups. The reviewer…

A Doctor Talks to 9-to-12-Year Olds.

ERIC Educational Resources Information Center

Larrigo, Marion O.; Cassidy, Michael A.

As a part of a series of books written by physicians for their patients, this publication explains heredity, birth, and growth patterns to pre-teen children. The chapters are written in language appropriate for children moving from childhood into their teens and deal with topics like: cells, conception, prenatal development, puberty, and changing…

Teaching Principles of Heredity to High School Students with Moderate and Severe Disabilities

ERIC Educational Resources Information Center

Riggs, Leah; Collins, Belva C.; Kleinert, Harold; Knight, Victoria F.

2013-01-01

This investigation focused on the systematic instruction of a science skill from the core content standards in accordance with the Kentucky Alternate Assessment for students with moderate and severe disabilities (MSD). Specifically, this study examined the effectiveness of using a constant time delay procedure with multiple exemplars in teaching…

A century of genetics

Treesearch

Daniel J. Fairbanks

2001-01-01

In 1866, Gregor Mendel published his experiments on heredity in the garden pea (Pisum sativum). The fundamental principles of inheritance derived from his work apply to nearly all eukaryotic species and are now known as Mendelian principles. Since 1900, Mendel has been recognized as the founder of genetics. In 1900, three botanists, Carl Correns, Hugo De Vries, and...

On "Jensenism": A Reply to Critics.

ERIC Educational Resources Information Center

Jensen, Arthur R.

In this address, Jensen discusses his views on the effects of heredity and environment on human intelligence, in an attempt to clarify his original statements on this subject. Since his article appeared in the "Harvard Educational Review" in 1969, the term "Jensenism" has accrued a variety of meanings through popular usage (according to Jensen)…

Awareness of Societal Issues among High School Biology Teachers Teaching Genetics

ERIC Educational Resources Information Center

Lazarowitz, Reuven; Bloch, Ilit

2005-01-01

The purpose of this study was to investigate how aware high school biology teachers are of societal issues (values, moral, ethic, and legal issues) while teaching genetics, genetics engineering, molecular genetics, human heredity, and evolution. The study includes a short historical review of World War II atrocities during the Holocaust when…

Prognosis of Lung Cancer: Heredity or Environment

DTIC Science & Technology

2015-06-01

former/never smoker), the primary lung cancer risk factor (Table 1). More blacks smoked menthol cigarettes compared with whites. More whites self...Unknown 5 Smoking status at cohort entry Current 253 (72.5) 102 (68.9) Former 75 (21.5) 40 (27.0) Never 21 (6.0) 6 (4.1) Smokes (or smoked) menthol

Stuttering in Adults: The Acoustic Startle Response, Temperamental Traits, and Biological Factors

ERIC Educational Resources Information Center

Alm, Per A.; Risberg, Jarl

2007-01-01

The purpose of this study was to investigate the relation between stuttering and a range of variables of possible relevance, with the main focus on neuromuscular reactivity, and anxiety. The explorative analysis also included temperament, biochemical variables, heredity, preonset lesions, and altered auditory feedback (AAF). An increased level of…

Back pain prevalence and associated factors in children and adolescents: an epidemiological population study

PubMed Central

Noll, Matias; Candotti, Cláudia Tarragô; da Rosa, Bruna Nichele; Loss, Jefferson Fagundes

2016-01-01

ABSTRACT OBJECTIVE To identify the prevalence of back pain among Brazilian school children and the factors associated with this pain. METHODS All 1,720 schoolchildren from the fifth to the eight grade attending schools from the city of Teutonia, RS, Southern Brazil, were invited to participate in the study. From these, 1,597 children participated. We applied the Back Pain and Body Posture Evaluation Instrument. The dependent variable was back pain, while the independent one were demographic, socioeconomic, behavior and heredity data. The prevalence ratio was estimated by multivariate analysis using the Poisson regression model (α = 0.05). RESULTS The prevalence of back pain in the last three months was 55.7% (n = 802). The multivariate analysis showed that back pain is associated with the variables: sex, parents with back pain, weekly frequency of physical activity, daily time spent watching television, studying in bed, sitting posture to write and use the computer, and way of carrying the backpack. CONCLUSIONS The prevalence of back pain in schoolchildren is high and it is associated with demographic, behavior and heredity aspects. PMID:27305406

Experiences of stigma by association among family members of people with mental illness.

PubMed

van der Sanden, Remko L M; Bos, Arjan E R; Stutterheim, Sarah E; Pryor, John B; Kok, Gerjo

2013-02-01

To investigate the relationships between public stigma, stigma by association (SBA), psychological distress, perceived closeness, perceived heredity, and the type of family relationship among family members of people with a mental illness. In this cross-sectional survey, data from 527 family members of people with a mental illness were analyzed. Perceptions of public stigma were found to be positively related to SBA and SBA correlated with greater psychological distress and less perceived closeness. SBA also mediated relationships between perceived public stigma and psychological distress, and between perceived public stigma and perceived closeness. Further, among participants who reported SBA, immediate family members showed lower levels of perceived closeness than extended family members. Also, the perceived heredity of mental illness was associated with perceptions of public stigma and psychological distress. The findings suggest that family members of people with a mental illness could benefit from education on mental illnesses, their treatment, and the extent to which they are hereditary. Additionally, particular attention should be paid to the psychological needs that arise from being a caregiver of someone with a mental illness.

Retaining {1 0 0} texture from initial columnar grains in 6.5 wt% Si electrical steels

NASA Astrophysics Data System (ADS)

Liang, Ruiyang; Yang, Ping; Mao, Weimin

2017-11-01

6.5 wt% Si electrical steel is a superior soft magnetic material with excellent magnetic properties which highly depends on texture. In this study, based on the heredity of 〈0 0 1〉 orientation in columnar grains, columnar grains are used as the initial material to prepare non-oriented 6.5 wt% Si electrical steel with excellent magnetic properties. EBSD and XRD techniques are adopted to explore the structure and texture evolution during hot rolling, warm rolling, cold rolling and annealing. The results show that, due to the heredity of "structure and texture" from the initial strong {1 0 0} columnar grains, annealed sheet with {1 0 0}〈0 0 1〉 texture had better magnetic properties, which can be used as non-oriented high-silicon electrical steel. Both preferred cube grain nucleation in deformed {1 1 3}〈3 6 1〉 grains in subsurface and coarse {1 0 0}〈0 0 1〉 deformed grains in center layer show the effect of initial columnar grains with {1 0 0} texture.

Scaffolding as an effort for thinking process optimization on heredity

NASA Astrophysics Data System (ADS)

Azizah, N. R.; Masykuri, M.; Prayitno, B. A.

2018-04-01

Thinking is an activity and process of manipulating and transforming data or information into memory. Thinking process is different between one and other person. Thinking process can be developed by interaction between student and their environment, such as scaffolding. Given scaffolding is based on each student necessity. There are 2 level on scaffolding such as explaining, reviewing, and restructuring; and developing conceptual thinking. This research is aimed to describe student’s thinking process on heredity especially on inheritance that is before and after scaffolding. This research used descriptive qualitative method. There were three kinds of subject degree such as the students with high, middle, and low achieving students. The result showed that subjects had some difficulty in dihybrid inheritance question in different place. Most difficulty was on determining the number of different characteristic, parental genotype, gamete, and ratio of genotype and phenotype F2. Based on discussed during scaffolding showed that the subjects have some misunderstanding terms and difficulty to determine parental, gamete, genotype, and phenotype. Final result in this research showed that the subjects develop thinking process higher after scaffolding. Therefore the subjects can solve question properly.

Eugenics and American social history, 1880-1950.

PubMed

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.

From Mendel to epigenetics: History of genetics.

PubMed

Gayon, Jean

2016-01-01

The origins of genetics are to be found in Gregor Mendel's memoir on plant hybridization (1865). However, the word 'genetics' was only coined in 1906, to designate the new science of heredity. Founded upon the Mendelian method for analyzing the products of crosses, this science is distinguished by its explicit purpose of being a general 'science of heredity', and by the introduction of totally new biological concepts (in particular those of gene, genotype, and phenotype). In the 1910s, Mendelian genetics fused with the chromosomal theory of inheritance, giving rise to what is still called 'classical genetics'. Within this framework, the gene is simultaneously a unit of function and transmission, a unit of recombination, and of mutation. Until the early 1950s, these concepts of the gene coincided. But when DNA was found to be the material basis of inheritance, this congruence dissolved. Then began the venture of molecular biology, which has never stopped revealing the complexity of the way in which hereditary material functions. Copyright © 2016 Académie des sciences. Published by Elsevier SAS. All rights reserved.

At issue: siblings of patients with schizophrenia: sibling bond, coping patterns, and fear of possible schizophrenia heredity.

PubMed

Stålberg, Gabriella; Ekerwald, Hedvig; Hultman, Christina M

2004-01-01

Siblings of schizophrenia patients are from the patient's perspective important support providers, but most studies on family burden have focused on the parental role. This study aims to develop a detailed analysis of the psychological aspects of having a sibling with schizophrenia. We did a qualitative study with audiotaped semistructured interviews of 16 siblings. The reliability of the inductive categorization of data was high. A unifying theme appeared to be an emotional sibling bond characterized by feelings of love, sorrow, anger, envy, guilt, and shame. The major categories linked to coping with the situation were avoidance, isolation, normalization, caregiving, and grieving. A third major theme consisted of a fear of possible schizophrenia heredity. The siblings described concerns about the impact of a family history of psychiatric illness, a fear of becoming mentally ill, and reflections about "bad genes." Our findings support earlier findings of coping patterns but complement them by providing a model that includes awareness of genetic vulnerability as an important part of siblings' subjective burden.

Persönlichkeitsentwicklung als ziel der Bildung: Aus der Sicht eines Psychologen

NASA Astrophysics Data System (ADS)

Heinze, Burger

1990-06-01

Personality, which is a term almost always used in a positive sense, does not exist from the moment of birth, but it develops under the influence of heredity and environment. Adolescence, which is seen as a transition from childhood to adulthood, raises difficulties in many modern industrialized countries as a result of the often arduous search for individual identity. In this context identity is seen as an interaction between heredity and environment. While developing his own personality, the young person has to maintain an integral existence vis-à-vis himself, society and life. Psychology defines the personality as the sum of numerous psychological characteristics, through which differences between people are revealed. The development of these characteristics is to be seen in the environment, maturation and actions of the individual. It can be subdivided into causes, conditions and processes. Finally the article discusses various aspects of the general question of education. The author concludes that the development of the personality should be an aim of education, but that this aim is presently unattainable because of a lack of clarity in the concept of education.

Obtaining subjects' consent to publish identifying personal information: current practices and identifying potential issues.

PubMed

Yoshida, Akiko; Dowa, Yuri; Murakami, Hiromi; Kosugi, Shinji

2013-11-25

In studies publishing identifying personal information, obtaining consent is regarded as necessary, as it is impossible to ensure complete anonymity. However, current journal practices around specific points to consider when obtaining consent, the contents of consent forms and how consent forms are managed have not yet been fully examined. This study was conducted to identify potential issues surrounding consent to publish identifying personal information. Content analysis was carried out on instructions for authors and consent forms developed by academic journals in four fields (as classified by Journal Citation Reports): medicine general and internal, genetics and heredity, pediatrics, and psychiatry. An online questionnaire survey of editors working for journals that require the submission of consent forms was also conducted. Instructions for authors were reviewed for 491 academic journals (132 for medicine general and internal, 147 for genetics and heredity, 100 for pediatrics, and 112 for psychiatry). Approximately 40% (203: 74 for medicine general and internal, 31 for genetics and heredity, 58 for pediatrics, and 40 for psychiatry) stated that subject consent was necessary. The submission of consent forms was required by 30% (154) of the journals studied, and 10% (50) provided their own consent forms for authors to use. Two journals mentioned that the possible effects of publication on subjects should be considered. Many journal consent forms mentioned the difficulties in ensuring complete anonymity of subjects, but few addressed the study objective, the subjects' right to refuse consent and the withdrawal of consent. The main reason for requiring the submission of consent forms was to confirm that consent had been obtained. Approximately 40% of journals required subject consent to be obtained. However, differences were observed depending on the fields. Specific considerations were not always documented. There is a need to address issues around the study objective, subjects' right to refuse consent and the withdrawal of consent. Whether responsibility for ensuring that the consent form has been signed lies with publishers also needs to be discussed.

Sleep Duration, Mortality, and Heredity-A Prospective Twin Study.

PubMed

Åkerstedt, Torbjörn; Narusyte, Jurgita; Alexanderson, Kristina; Svedberg, Pia

2017-10-01

A number of studies have shown a U-shaped association between sleep duration and mortality. Since sleep duration is partly genetically determined, it seems likely that its association with mortality is also genetically influenced. The purpose of the present study was to investigate the influence on heredity on the association between sleep duration and mortality. We used a cohort of 14267 twins from the Swedish Twin Registry. A Cox proportional hazards regression analysis, adjusted for a number of covariates, confirmed a clear U shape with a hazard ratio (HR) = 1.34 and 95% confidence interval (CI) = 1.15-1.57 for a sleep duration of ≤6.5 hours and HR = 1.18 (CI = 1.07-1.30) for sleep of ≥9.5 hours. Reference value was 7.0 hours. A co-twin analysis of 1942 twins discordant on mortality showed a HR = 2.66 (CI = 1.17-6.04) for long (≥9.5 hours) sleep in monzygotic twins and an HR = 0.66 (CI = 0.20-2.14) for short (<6.5 hours) sleep. In dizygotic twins, no association was significant. The heritability for mortality was 28% for the whole group, while it was 86% for short sleepers and 42% for long sleepers. Thus, the link with mortality for long sleep appears to be more due to environmental factors than to heredity, while heritability dominates among short sleepers. We found that both long and short sleep were associated with higher total mortality, that the difference in mortality within twin pairs is associated with long sleep, and that short sleep has a higher heritability for mortality, while long sleep is associated with more environmental influences on mortality. © Sleep Research Society 2017. Published by Oxford University Press on behalf of the Sleep Research Society. All rights reserved. For permissions, please e-mail journals.permissions@oup.com.

Revelations, Responses, Refinement: An Overview of the Research Pertaining to the Young Child, 1960-79.

ERIC Educational Resources Information Center

Clark, Vernon L.

1979-01-01

Discusses research concerns of the 1960s, including the heredity v environment controversy and compensatory strategies. Reviews the response to these concerns, particularly the focuses on child advocacy and ethnic issues, which have dominated research in the 1970s. Outlines an integrated (social, developmental, and applied) approach for the…

[Spongiform encephalitis].

PubMed

Domínguez Carmona, M; Domínguez de la Calle, M

2001-01-01

The authors present a personal interpretation of the pathogeny of prionic processes, showing the role played by heredity. They also present the very surprising fact that a protein codified by a mutant gene can act as transmissible agent in a serious illness opening new chapters to the pathology of a series of important diseases. This is a completely new perspective in the biology.

The H3Africa policy framework: negotiating fairness in genomics

PubMed Central

de Vries, Jantina; Tindana, Paulina; Littler, Katherine; Ramsay, Michèle; Rotimi, Charles; Abayomi, Akin; Mulder, Nicola; Mayosi, Bongani M.

2015-01-01

Human Heredity and Health in Africa (H3Africa) research seeks to promote fair collaboration between scientists in Africa and those from elsewhere. Here, we outline how concerns over inequality and exploitation led to a policy framework that places a firm focus on African leadership and capacity building as guiding principles for African genomics research. PMID:25601285

Nature or Nurture? A Lesson Incorporating Students' Interests in a High-School Biology Class

ERIC Educational Resources Information Center

Hagay, Galit; Peleg, Ran; Laslo, Esti; Baram-Tsabari, Ayelet

2013-01-01

We present a case study of a lesson that incorporates high school students' interests in heredity alongside the requirements of the curriculum. This was done by collecting students' questions in advance and inserting them in strategic places in the biology curriculum, thus creating a "shadow curriculum". The idea underlying the lesson…

Teaching for Genetics Literacy in the Post-Genomic Era

ERIC Educational Resources Information Center

Stern, Florian; Kampourakis, Kostas

2017-01-01

Research in genetics and genomics is advancing at a fast pace, and thus keeping up with the most recent findings and conclusions can be very challenging. At the same time these recent findings and conclusions have made necessary a reconceptualization of genes and heredity, both in science and in science education, beyond the mostly gene-centred…

From Phenotype to Genotype: Exploring Middle School Students' Understanding of Genetic Inheritance in a Web-Based Environment

ERIC Educational Resources Information Center

Williams, Michelle; Montgomery, Beronda L.; Manokore, Viola

2012-01-01

Research shows that students face challenges as they learn about genetic inheritance. The challenges could emanate from the fact that genetic inheritance involves unseen processes at different organizational levels. We explored students' understanding of heredity and related concepts such as cells and reproduction using a Web-based Science Inquiry…

A Twin and Adoption Study of Reading Achievement: Exploration of Shared-Environmental and Gene-Environment-Interaction Effects

ERIC Educational Resources Information Center

Kirkpatrick, Robert M.; Legrand, Lisa N.; Iacono, William G.; McGue, Matt

2011-01-01

Existing behavior-genetic research implicates substantial influence of heredity and modest influence of shared environment on reading achievement and reading disability. Applying DeFries-Fulker analysis to a combined sample of twins and adoptees (N = 4886, including 266 reading-disabled probands), the present study replicates prior findings of…

Heredity vs. Environment: The Effects of Genetic Variation with Age

ERIC Educational Resources Information Center

Gourlay, N.

1978-01-01

Major problems in the field are presented through a brief review of Burt's work and a critical account of the Hawaiian and British schools of biometrical genetics. The merits and demerits of Christopher Jencks' study are also discussed. There follows an account of the principle of genetic variation with age, a new concept to the…

Color Code: Using Hair Color to Make a Clear Connection between Genotype and Phenotype

ERIC Educational Resources Information Center

Bonner, J. Jose

2011-01-01

Students may wonder why they look the way they do. The answer lies in genetics, the branch of biology that deals with heredity and the variation of inherited traits. However, understanding how an organism's genetic code (i.e., genotype) affects its characteristics (i.e., phenotype) is more than a matter of idle curiosity: It's essential for…

The Role of Heredity in Reading Disability.

ERIC Educational Resources Information Center

Delker, Laryl Lee

A clinical and genetic analysis was made on the basis of 52 families: 27 were from reading clinics where at least one child in the family had been diagnosed as having a reading disability; 25 were families of children selected from a third-, fourth-, or fifth-grade class on the basis of having average or above-average IQ and achievement. Through…

The Gene: Time, Space and Spirit--Keys to Scientific Literacy Series.

ERIC Educational Resources Information Center

Stonebarger, Bill

It has only been since the late nineteenth century that people have understood the mechanics of heredity and the discoveries of genes and DNA are even more recent. This booklet considers three aspects of genetics; time, space, and spirit. Time refers to a sense of history; space refers to geography; and spirit refers to life and thought. Several…

A Life of Sir Francis Galton: From African Exploration to the Birth of Eugenics [Book Review].

ERIC Educational Resources Information Center

Deary, Ian J.

2002-01-01

This biography explores the many scientific interests and contributions of Francis Galton and outlines his psychological studies as a "detour" from his major works that lasted from 1877 to 1885. Galton's interest in heredity was a focus of the second half of his life, the first having concentrated on geography and exploration. (SLD)

Science K-12, Living Things Are Products of Their Heredity and Their Environment. Utica City School District Articulated Curriculum: Project SEARCH, 1975.

ERIC Educational Resources Information Center

Utica City School District, NY.

Two-column objectives are listed for an integrated science curriculum (grades K-12), often subheaded according to science area (biology, health, general science, physical science) and grade level. Concepts regarding characteristics of living things are stressed in objectives for the primary grades (K-5), and reproductive biology is covered…

Cultural differences in rated typicality and perceived causes of memory changes in adulthood.

PubMed

Bottiroli, Sara; Cavallini, Elena; Fastame, Maria Chiara; Hertzog, Christopher

2013-01-01

This study examined cultural differences in stereotypes and attributions regarding aging and memory. Two subcultures belonging to the same country, Italy, were compared on general beliefs about memory. Sardinians live longer than other areas of Italy, which is a publically shared fact that informs stereotypes about that subculture. An innovative instrument evaluating simultaneously aging stereotypes and attributions about memory and memory change in adulthood was administered to 52 Sardinian participants and 52 Milanese individuals divided into three age groups: young (20-30), young-old (60-70), and old-old (71-85) adults. Both Milanese and Sardinians reported that memory decline across the life span is more typical than a pattern of stability or improvement. However, Sardinians viewed stability and improvement in memory as more typical than did the Milanese. Interestingly, cultural differences emerged in attributions about memory improvement. Although all Sardinian age groups rated nutrition and heredity as relevant causes in determining the memory decline, Sardinians' rated typicality of life-span memory improvement correlated strongly with causal attributions to a wide number of factors, including nutrition and heredity. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Preformed cell structure and cell heredity

PubMed Central

2008-01-01

This review will first recall the phenomena of “cortical inheritance” observed and genetically demonstrated in Paramecium 40 years ago, and later in other ciliates (Tetrahymena, Oxytricha, Paraurostyla), and will analyze the deduced concept of “cytotaxis” or “structural memory.” The significance of these phenomena, all related (but not strictly restricted) to the properties of ciliary basal bodies and their mode of duplication, will be interpreted in the light of present knowledge on the mechanism and control of basal body/centriole duplication. Then other phenomena described in a variety of organisms will be analyzed or mentioned which show the relevance of the concept of cytotaxis to other cellular processes, mainly (1) cytoskeleton assembly and organization with examples on ciliates, trypanosome, mammalian cells and plants, and (2) transmission of polarities with examples on yeast, trypanosome and metazoa. Finally, I will discuss some aspects of this particular type of non-DNA inheritance: (1) why so few documented examples if structural memory is a basic parameter in cell heredity, and (2) how are these phenomena (which all rely on protein/protein interactions, and imply a formatting role of preexisting proteinic complexes on neo-formed proteins and their assembly) related to prions? PMID:19164887

Tebufenozide resistance is associated with sex-linked inheritance in Plutella xylostella.

PubMed

Cao, Guang-Chun; Han, Zhao-Jun

2015-04-01

The diamondback moth (DBM), Plutella xylostella (L.), is a major pest of cruciferous crops. Tebufenozide, a novel nonsteroidal ecdysone agonist, exhibits good efficacy and has played an increasingly important role in the control of Lepidopteran pests in China. For its resistance management, the genetic basis of tebufenozide resistance was studied using a laboratory selected resistant strain of DBM (resistant ratio, RR = 268). A series of crosses with laboratory susceptible and resistant strains revealed that tebufenozide resistance in this pest was partially biased toward female heredity, with a large difference in RR for F1 (RR = 29) and rF1 progeny (RR = 147). The dominance calculated for these 2 cross progeny was -0.788 and 0.09, respectively. Further analysis showed that the susceptible male and female larvae were similar in their sensitivity to tebufenozide, but the resistant female larvae showed significantly higher resistance than the resistant male larvae. The heredity of tebufenozide resistance in DBM might be linked with the W sex chromosome, which suggested that DBM has the ability to develop high levels of resistance to tebufenozide. This is the first report of sex-linked inheritance of tebufenozide resistance in P. xylostella (L.). © 2013 Institute of Zoology, Chinese Academy of Sciences.

Crumbling Diversity: Comparison of Historical Archived and Contemporary Natural Populations Indicate Reduced Genetic Diversity and Increasing Genetic Differentiation in the Golden-Cheeked Warbler

DTIC Science & Technology

2011-06-01

clavata. Heredity 101:120–126 Crow JF, Denniston C (1988) Inbreeding and variance effective population numbers. Evolution 42:482–495 Dixo M, Metzger JP...University Press, Cambridge, pp 361–366 Young A, Boyle T, Brown T (1996) The population genetic consequences of habitat fragmentation for plants . Trends

Oscar Riddle's Science, a Special Bird, & the Founding of the NABT

ERIC Educational Resources Information Center

Vandervoort, Frances S.

2013-01-01

Oscar Riddle, born in Indiana in 1877, was an ardent evolutionist and a key player in the founding of the National Association of Biology Teachers in 1938. He studied heredity and behavior in domestic pigeons and doves with Charles O. Whitman of the University of Chicago, received his Ph.D. in zoology in 1907, and in 1912 began a long career at…

The Winding Road to Discovering the Link between Genetic Material and DNA

ERIC Educational Resources Information Center

Cherif, Abour H.; Roze, Maris; Movahedzadeh, Farahnaz

2015-01-01

This is an account of the three-centuries long journey to the discovery of the link between DNA and the transformation principle of heredity beginning with the discovery of the cell in 1665 and leading up to the 1953 discovery of the genetic code and the structure of DNA. This account also illustrates the way science works and how scientists do…

Probing the Natural World, Volume 3A, Environmental Science, Crusty Problems, and Why You're You.

ERIC Educational Resources Information Center

Florida State Univ., Tallahassee. Dept. of Science Education.

This volume is the first of a three volume, one year program for use in junior high school, and consists of these three units: Environmental Science, Crusty Problems (earth science), and Why You're You (heredity). The environmental science unit is composed of chapters relating to these subjects: the black death (plague); energy, food chain, and…

Obtaining subjects’ consent to publish identifying personal information: current practices and identifying potential issues

PubMed Central

2013-01-01

Background In studies publishing identifying personal information, obtaining consent is regarded as necessary, as it is impossible to ensure complete anonymity. However, current journal practices around specific points to consider when obtaining consent, the contents of consent forms and how consent forms are managed have not yet been fully examined. This study was conducted to identify potential issues surrounding consent to publish identifying personal information. Methods Content analysis was carried out on instructions for authors and consent forms developed by academic journals in four fields (as classified by Journal Citation Reports): medicine general and internal, genetics and heredity, pediatrics, and psychiatry. An online questionnaire survey of editors working for journals that require the submission of consent forms was also conducted. Results Instructions for authors were reviewed for 491 academic journals (132 for medicine general and internal, 147 for genetics and heredity, 100 for pediatrics, and 112 for psychiatry). Approximately 40% (203: 74 for medicine general and internal, 31 for genetics and heredity, 58 for pediatrics, and 40 for psychiatry) stated that subject consent was necessary. The submission of consent forms was required by 30% (154) of the journals studied, and 10% (50) provided their own consent forms for authors to use. Two journals mentioned that the possible effects of publication on subjects should be considered. Many journal consent forms mentioned the difficulties in ensuring complete anonymity of subjects, but few addressed the study objective, the subjects’ right to refuse consent and the withdrawal of consent. The main reason for requiring the submission of consent forms was to confirm that consent had been obtained. Conclusion Approximately 40% of journals required subject consent to be obtained. However, differences were observed depending on the fields. Specific considerations were not always documented. There is a need to address issues around the study objective, subjects’ right to refuse consent and the withdrawal of consent. Whether responsibility for ensuring that the consent form has been signed lies with publishers also needs to be discussed. PMID:24267590

The H3Africa policy framework: negotiating fairness in genomics.

PubMed

de Vries, Jantina; Tindana, Paulina; Littler, Katherine; Ramsay, Michèle; Rotimi, Charles; Abayomi, Akin; Mulder, Nicola; Mayosi, Bongani M

2015-03-01

Human Heredity and Health in Africa (H3Africa) research seeks to promote fair collaboration between scientists in Africa and those from elsewhere. Here, we outline how concerns over inequality and exploitation led to a policy framework that places a firm focus on African leadership and capacity building as guiding principles for African genomics research. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

Epibulbar lipodermoids, preauricular appendages and polythelia in four generations: a new hereditary syndrome?

PubMed

Goldschmidt, Ernst; Jacobsen, Nina

2010-06-01

A new syndrome with abnormalities along the first branchial arch and the milk list is described in a family of four affected generations. The characteristics of the syndrome are epibulbar lipodermoids, preauricular appendages and polythelia. The expressivity varies but all affected have supernumerary nipples and preauricular manifestations while visible epibulbar lipodermoids do not seem obligatory. The syndrome has a typical dominant pattern of heredity.

Why the Rediscoverer Ended up on the Sidelines: Hugo De Vries's Theory of Inheritance and the Mendelian Laws

ERIC Educational Resources Information Center

Stamhuis, Ida H.

2015-01-01

Eleven years before the "rediscovery" in 1900 of Mendel's work, Hugo De Vries published his theory of heredity. He expected his theory to become a big success, but it was not well-received. To find supporting evidence for this theory De Vries started an extensive research program. Because of the parallels of his ideas with the…

Heredity-Environment Influences on Growth and Development During Adolescence. A Longitudinal Study of Twins. Studies in Education and Psychology 4.

ERIC Educational Resources Information Center

Fischbein, Siv

A summary and discussion of a series of studies considered the dilemma that equal educational treatment of all children in public schools appears likely to increase the spread of differences among them in educational achievement. Longitudinal studies of pairs of identical and of fraternal twins in Sweden from 10 to 18 years of age considered the…

Variability of rooting in a small second-generation population of the hybrid Pinus attenuradiata

Treesearch

J. W. Duffield; A. R. Liddicoet

1949-01-01

Propagation of conifers by rooting of cuttings is an old art that has recently benefited by the findings of the plant physiologist. The forest tree breeder may now use rooting as a tool in his efforts to evaluate the heredity of his trees. In a study undertaken to use vegetative propagation of members of a variable hybrid population as a guide for selecting superior...

Negotiating the Limits of Upbringing, Education, and Racial Hygiene in Nazi Germany as Exemplified in the Study and Treatment of Sinti and Roma

ERIC Educational Resources Information Center

Schuch, Jane

2017-01-01

Like other minorities, Sinti and Roma were victims of racial persecution by the Nazis. For this group in particular, the Racial-Hygienic and Heredity Research Centre in the Reich Health Office became a central institution in the Nazi system of extermination. Eva Justin, a reseacher at the Centre, published her doctoral dissertation while working…

[Creating a 'Germanic' public health: national-socialism, human genetics, and eugenics in the Netherlands].

PubMed

Snelders, Stephen

2007-01-01

The consequences of the uses of concepts of heredity in society and health care are not simply determined. This is demonstrated by a study of Dutch National Socialist doctors and biologists in the Second World War. During the German occupation of the Netherlands SS-biologist W.F.H. Stroër (1907-1979) and SS-doctor J.A. van der Hoeven (1912-1998) attempted to create a eugenic research and health care institute in the Netherlands. Heredity was accorded a key role in National Socialist plans for reorganization of Dutch health care. The ideas of the SS-eugenicists were closely related to those of leading geneticists and eugenicists in the Netherlands. Eugenic ideas were spread among all political ideologies. As late as November 1942 cooperation between the SS and non-Nazi geneticists was still discussed. The hardening of the political climate during the war created more explicit dividing lines between them. The SS-researchers did not believe in the existence of well-defined and separated races. They rejected a purely genetic determinism and advocated measures of social hygiene next to a positive and negative eugenics in the creation of a more healthy Germanic people and a purer race. Racial and genetic concepts were not exclusively translated into eugenic policies directed at human reproduction.

Indoor environmental risk factors in young asthmatics: a case-control study.

PubMed

Lindfors, A; Wickman, M; Hedlin, G; Pershagen, G; Rietz, H; Nordvall, S L

1995-11-01

One hundred and ninety three children with asthma and 318 controls aged 1-4 years were evaluated for atopic heredity and exposure to possible indoor risk factors for asthma-for example exposure to furred pets, tobacco smoke, and home dampness. A subgroup of cases were classified as cat and/or dog allergic on the basis of skin prick tests. Heredity for asthma was a significant risk factor (odds ratio (OR) 3.0, confidence interval (CI) 2.1 to 4.6). Environmental tobacco smoke was associated with an excess risk for asthma (OR 1.7, CI 1.1 to 2.3) and signs of home dampness tended to increase this risk (OR 1.3, CI 0.9 to 2.0). High dose exposure to cat and/or dog resulted in an increased risk only in asthma cases sensitised to cat and/or dog (OR 2.7, CI 1.0 to 7.3). A combination of high dose exposure to cat and/or dog, environmental tobacco smoke and damp housing was associated with an OR of 8.0 (CI 1.9 to 34.1). Raised indoor humidity has been shown to reflect low air exchange, which may also lead to increased doses of inhaled aeroallergens and tobacco smoke, and contribute to the interaction between the three risk factors.

Indoor environmental risk factors in young asthmatics: a case-control study.

PubMed Central

Lindfors, A; Wickman, M; Hedlin, G; Pershagen, G; Rietz, H; Nordvall, S L

1995-01-01

One hundred and ninety three children with asthma and 318 controls aged 1-4 years were evaluated for atopic heredity and exposure to possible indoor risk factors for asthma-for example exposure to furred pets, tobacco smoke, and home dampness. A subgroup of cases were classified as cat and/or dog allergic on the basis of skin prick tests. Heredity for asthma was a significant risk factor (odds ratio (OR) 3.0, confidence interval (CI) 2.1 to 4.6). Environmental tobacco smoke was associated with an excess risk for asthma (OR 1.7, CI 1.1 to 2.3) and signs of home dampness tended to increase this risk (OR 1.3, CI 0.9 to 2.0). High dose exposure to cat and/or dog resulted in an increased risk only in asthma cases sensitised to cat and/or dog (OR 2.7, CI 1.0 to 7.3). A combination of high dose exposure to cat and/or dog, environmental tobacco smoke and damp housing was associated with an OR of 8.0 (CI 1.9 to 34.1). Raised indoor humidity has been shown to reflect low air exchange, which may also lead to increased doses of inhaled aeroallergens and tobacco smoke, and contribute to the interaction between the three risk factors. PMID:8554356

The Contributions - and Collapse - of Lamarckian Heredity in Pasteurian Molecular Biology: 1. Lysogeny, 1900-1960.

PubMed

Loison, Laurent; Gayon, Jean; Burian, Richard M

2017-02-01

This article shows how Lamarckism was essential in the birth of the French school of molecular biology. We argue that the concept of inheritance of acquired characters positively shaped debates surrounding bacteriophagy and lysogeny in the Pasteurian tradition during the interwar period. During this period the typical Lamarckian account of heredity treated it as the continuation of protoplasmic physiology in daughter cells. Félix d'Hérelle applied this conception to argue that there was only one species of bacteriophage and Jules Bordet applied it to develop an account of bacteriophagy as a transmissible form of autolysis and to analyze the new phenomenon of lysogeny. In a long-standing controversy with Bordet, Eugène Wollman deployed a more morphological understanding of the inheritance of acquired characters, yielding a particulate, but still Lamarckian, account of lysogeny. We then turn to André Lwoff who, with several colleagues, completed Wollman's research program from 1949 to 1953. We examine how he gradually set aside the Lamarckian background, finally removing inheritance of acquired characters from the resulting account of bacteriophagy and lysogeny. In the conclusion, we emphasize the complex dual role of Lamarckism as it moved from an assumed explanatory framework to a challenge that the nascent molecular biology had to overcome.

Discipline building in Germany: women and genetics at the Berlin Institute for Heredity Research.

PubMed

Stamhuis, Ida H; Vogt, Annette B

2017-06-01

The origin and the development of scientific disciplines has been a topic of reflection for several decades. The few extensive case studies support the thesis that scientific disciplines are not monolithic structures but can be characterized by distinct social, organizational and scientific-technical practices. Nonetheless, most disciplinary histories of genetics confine themselves largely to an uncontested account of the content of the discipline or occasionally institutional factors. Little attention is paid to the large number of researchers who, by their joint efforts, ultimately shaped the discipline. We contribute to this aspect of disciplinary historiography by discussing the role of women researchers at the Institute for Heredity Research, founded in 1914 in Berlin under the directorship of Erwin Baur, and the sister of the John Innes Institute at Cambridge. This paper investigates how and why Baur built a highly successful research programme that relied on the efforts of his female staff, whose careers, notably Elisabeth Schiemann's, are also assessed in toto. These women undertook the necessary 'technoscience' and in some cases innovative work and helped increase the prestige of the institute and its director. Together they played a pivotal role in the establishment of genetics in Germany. Without them the discipline would have developed much more slowly and along a divergent path.

H3ABioNet, a sustainable pan-African bioinformatics network for human heredity and health in Africa

PubMed Central

Mulder, Nicola J.; Adebiyi, Ezekiel; Alami, Raouf; Benkahla, Alia; Brandful, James; Doumbia, Seydou; Everett, Dean; Fadlelmola, Faisal M.; Gaboun, Fatima; Gaseitsiwe, Simani; Ghazal, Hassan; Hazelhurst, Scott; Hide, Winston; Ibrahimi, Azeddine; Jaufeerally Fakim, Yasmina; Jongeneel, C. Victor; Joubert, Fourie; Kassim, Samar; Kayondo, Jonathan; Kumuthini, Judit; Lyantagaye, Sylvester; Makani, Julie; Mansour Alzohairy, Ahmed; Masiga, Daniel; Moussa, Ahmed; Nash, Oyekanmi; Ouwe Missi Oukem-Boyer, Odile; Owusu-Dabo, Ellis; Panji, Sumir; Patterton, Hugh; Radouani, Fouzia; Sadki, Khalid; Seghrouchni, Fouad; Tastan Bishop, Özlem; Tiffin, Nicki; Ulenga, Nzovu

2016-01-01

The application of genomics technologies to medicine and biomedical research is increasing in popularity, made possible by new high-throughput genotyping and sequencing technologies and improved data analysis capabilities. Some of the greatest genetic diversity among humans, animals, plants, and microbiota occurs in Africa, yet genomic research outputs from the continent are limited. The Human Heredity and Health in Africa (H3Africa) initiative was established to drive the development of genomic research for human health in Africa, and through recognition of the critical role of bioinformatics in this process, spurred the establishment of H3ABioNet, a pan-African bioinformatics network for H3Africa. The limitations in bioinformatics capacity on the continent have been a major contributory factor to the lack of notable outputs in high-throughput biology research. Although pockets of high-quality bioinformatics teams have existed previously, the majority of research institutions lack experienced faculty who can train and supervise bioinformatics students. H3ABioNet aims to address this dire need, specifically in the area of human genetics and genomics, but knock-on effects are ensuring this extends to other areas of bioinformatics. Here, we describe the emergence of genomics research and the development of bioinformatics in Africa through H3ABioNet. PMID:26627985

Clinical study of the oral manifestations and related factors in type 2 diabetics patients.

PubMed

Sousa, Maria Goretti de Menezes; Costa, Antonio de Lisboa Lopes; Roncalli, Angelo Giuseppe

2011-01-01

Diabetes Mellitus (DM) is reported with and associated to oral alterations, with conflicting results. The aim of this study was to identify the prevalence of oral soft tissue alterations in type 2 diabetes mellitus patients. Socioeconomic variables, gender, heredity, capillary glucose control and local factors (prosthesis, dry mouth sensation) were analyzed in 196 diabetic and non-diabetic patients enrolled in HIPERDIA, at 41 Health units of Natal, Brazil. A case study. The last blood glucose mean was 177.0 mg/dl for diabetics and 89.46 mg/dl for non-diabetics. Mean capillary blood glucose was elevated in diabetics (215.95 mg/dl); it was 102.31 mg/dl in non-diabetics. The family history confirmed the heredity nature of the disease in 68.8% of diabetic patients (n = 66) (p < 0.001); salivary flow was 49% (n = 47) in diabetics, and 34% (n = 34) in non-diabetics. Candidiasis was present in 30.5% of diabetic patients (n=29) and 36% of non-diabetics (n=36). Both groups had lesions in the palate - 81.4% (n = 35) in diabetics, and 71.1% in non-diabetics (n = 27) (p = 0.68). The alterations are not related to diabetes and are present independently of having or not type 2 Diabetes Mellitus.

Sources of Wilhelm Johannsen's genotype theory.

PubMed

Roll-Hansen, Nils

2009-01-01

This paper describes the historical background and early formation of Wilhelm Johannsen's distinction between genotype and phenotype. It is argued that contrary to a widely accepted interpretation (For instance, W. Provine, 1971. The Origins of Theoretical Population Genetics. Chicago: The University of Chicago Press; Mayr, 1973; F. B. Churchill, 1974. Journal of the History of Biology 7: 5-30; E. Mayr, 1982. The Growth of Biological Thought, Cambridge: Harvard University Press; J. Sapp, 2003. Genesis. The Evolution of Biology. New York: Oxford University Press) his concepts referred primarily to properties of individual organisms and not to statistical averages. Johannsen's concept of genotype was derived from the idea of species in the tradition of biological systematics from Linnaeus to de Vries: An individual belonged to a group - species, subspecies, elementary species - by representing a certain underlying type (S. Müller-Wille and V. Orel, 2007. Annals of Science 64: 171-215). Johannsen sharpened this idea theoretically in the light of recent biological discoveries, not least those of cytology. He tested and confirmed it experimentally combining the methods of biometry, as developed by Francis Galton, with the individual selection method and pedigree analysis, as developed for instance by Louis Vilmorin. The term "genotype" was introduced in W. Johannsen's 1909 (Elemente der Exakten Erblichkeitslehre. Jena: Gustav Fischer) treatise, but the idea of a stable underlying biological "type" distinct from observable properties was the core idea of his classical bean selection experiment published 6 years earlier (W. Johannsen, 1903. Ueber Erblichkeit in Populationen und reinen Linien. Eine Beitrag zur Beleuchtung schwebender Selektionsfragen, Jena: Gustav Fischer, pp. 58-59). The individual ontological foundation of population analysis was a self-evident presupposition in Johannsen's studies of heredity in populations from their start in the early 1890s till his death in 1927. The claim that there was a "substantial but cautious modification of Johannsen's phenotype-genotype distinction" (Churchill, 1974, p. 24) from a statistical to an individual ontological perspective derives from a misreading of the 1903 and 1909 texts. The immediate purpose of this paper is to correct this reading of the 1903 monograph by showing how its problems and results grow out of Johannsen's earlier work in heredity and plant breeding. Johannsen presented his famous selection experiment as the culmination of a line of criticism of orthodox Darwinism by William Bateson, Hugo de Vries, and others (Johannsen, 1903). They had argued that evolution is based on stepwise rather than continuous change in heredity. Johannsen's paradigmatic experiment showed how stepwise variation in heredity could be operationally distinguished from the observable, continuous morphological variation. To test Galton's law of partial regression, Johannsen deliberately chose pure lines of self-fertilizing plants, a pure line being the descendants in successive generations of one single individual. Such a population could be assumed to be highly homogeneous with respect to hereditary type, and Johannsen found that selection produced no change in this type. Galton, he explained, had experimented with populations composed of a number of stable hereditary types. The partial regression which Galton found was simply an effect of selection between types, increasing the proportion of some types at the expense of others.

AFQT Score Forecasting Models for Regional Estimation of Qualified Military Available

DTIC Science & Technology

1990-06-01

century with the work of the British scholar, Sir Francis Galton . Galton believed that genetics determined mental ability and in his well known book...entitled Heredity Genius (1869), he concluded that success ran in families because great intelligence was passed from generation to generation through...for developing such a testing system was in contrast to that of Galton , for it suggested that the mental ability of subnormal children could improve

Post-Fisherian Experimentation: From Physical to Virtual

DOE PAGES

Jeff Wu, C. F.

2014-04-24

Fisher's pioneering work in design of experiments has inspired further work with broader applications, especially in industrial experimentation. Three topics in physical experiments are discussed: principles of effect hierarchy, sparsity, and heredity for factorial designs, a new method called CME for de-aliasing aliased effects, and robust parameter design. The recent emergence of virtual experiments on a computer is reviewed. Here, some major challenges in computer experiments, which must go beyond Fisherian principles, are outlined.

Self-reported chemicals exposure, beliefs about disease causation, and risk of breast cancer in the Cape Cod Breast Cancer and Environment Study: a case-control study

PubMed Central

2010-01-01

Background Household cleaning and pesticide products may contribute to breast cancer because many contain endocrine disrupting chemicals or mammary gland carcinogens. This population-based case-control study investigated whether use of household cleaners and pesticides increases breast cancer risk. Methods Participants were 787 Cape Cod, Massachusetts, women diagnosed with breast cancer between 1988 and 1995 and 721 controls. Telephone interviews asked about product use, beliefs about breast cancer etiology, and established and suspected breast cancer risk factors. To evaluate potential recall bias, we stratified product-use odds ratios by beliefs about whether chemicals and pollutants contribute to breast cancer; we compared these results with odds ratios for family history (which are less subject to recall bias) stratified by beliefs about heredity. Results Breast cancer risk increased two-fold in the highest compared with lowest quartile of self-reported combined cleaning product use (Adjusted OR = 2.1, 95% CI: 1.4, 3.3) and combined air freshener use (Adjusted OR = 1.9, 95% CI: 1.2, 3.0). Little association was observed with pesticide use. In stratified analyses, cleaning products odds ratios were more elevated among participants who believed pollutants contribute "a lot" to breast cancer and moved towards the null among the other participants. In comparison, the odds ratio for breast cancer and family history was markedly higher among women who believed that heredity contributes "a lot" (OR = 2.6, 95% CI: 1.9, 3.6) and not elevated among others (OR = 0.7, 95% CI: 0.5, 1.1). Conclusions Results of this study suggest that cleaning product use contributes to increased breast cancer risk. However, results also highlight the difficulty of distinguishing in retrospective self-report studies between valid associations and the influence of recall bias. Recall bias may influence higher odds ratios for product use among participants who believed that chemicals and pollutants contribute to breast cancer. Alternatively, the influence of experience on beliefs is another explanation, illustrated by the protective odds ratio for family history among women who do not believe heredity contributes "a lot." Because exposure to chemicals from household cleaning products is a biologically plausible cause of breast cancer and avoidable, associations reported here should be further examined prospectively. PMID:20646273

Using Bayesian variable selection to analyze regular resolution IV two-level fractional factorial designs

DOE PAGES

Chipman, Hugh A.; Hamada, Michael S.

2016-06-02

Regular two-level fractional factorial designs have complete aliasing in which the associated columns of multiple effects are identical. Here, we show how Bayesian variable selection can be used to analyze experiments that use such designs. In addition to sparsity and hierarchy, Bayesian variable selection naturally incorporates heredity . This prior information is used to identify the most likely combinations of active terms. We also demonstrate the method on simulated and real experiments.

Using Bayesian variable selection to analyze regular resolution IV two-level fractional factorial designs

DOE Office of Scientific and Technical Information (OSTI.GOV)

Chipman, Hugh A.; Hamada, Michael S.

Regular two-level fractional factorial designs have complete aliasing in which the associated columns of multiple effects are identical. Here, we show how Bayesian variable selection can be used to analyze experiments that use such designs. In addition to sparsity and hierarchy, Bayesian variable selection naturally incorporates heredity . This prior information is used to identify the most likely combinations of active terms. We also demonstrate the method on simulated and real experiments.

Mutation and Chaos in Nonlinear Models of Heredity

PubMed Central

Nawi, Ashraf Mohamed

2014-01-01

We shall explore a nonlinear discrete dynamical system that naturally occurs in population systems to describe a transmission of a trait from parents to their offspring. We consider a Mendelian inheritance for a single gene with three alleles and assume that to form a new generation, each gene has a possibility to mutate, that is, to change into a gene of the other kind. We investigate the derived models and observe chaotic behaviors of such models. PMID:25136693

In the Beginning was a Mutualism - On the Origin of Translation

NASA Astrophysics Data System (ADS)

Vitas, Marko; Dobovišek, Andrej

2018-04-01

The origin of translation is critical for understanding the evolution of life, including the origins of life. The canonical genetic code is one of the most dominant aspects of life on this planet, while the origin of heredity is one of the key evolutionary transitions in living world. Why the translation apparatus evolved is one of the enduring mysteries of molecular biology. Assuming the hypothesis, that during the emergence of life evolution had to first involve autocatalytic systems which only subsequently acquired the capacity of genetic heredity, we propose and discuss possible mechanisms, basic aspects of the emergence and subsequent molecular evolution of translation and ribosomes, as well as enzymes as we know them today. It is possible, in this sense, to view the ribosome as a digital-to-analogue information converter. The proposed mechanism is based on the abilities and tendencies of short RNA and polypeptides to fold and to catalyse biochemical reactions. The proposed mechanism is in concordance with the hypothesis of a possible chemical co-evolution of RNA and proteins in the origin of the genetic code or even more generally at the early evolution of life on Earth. The possible abundance and availability of monomers at prebiotic conditions are considered in the mechanism. The hypothesis that early polypeptides were folding on the RNA scaffold is also considered and mutualism in molecular evolutionary development of RNA and peptides is favoured.

The effect of genetic counseling for adult offspring of patients with type 2 diabetes on attitudes toward diabetes and its heredity: a randomized controlled trial.

PubMed

Nishigaki, M; Tokunaga-Nakawatase, Y; Nishida, J; Kazuma, K

2014-10-01

The aim of this study is to investigate the effect of diabetes genetic counseling on attitudes toward diabetes and its heredity in relatives of type 2 diabetes patients. This study was an unmasked, randomized controlled trial at a medical check-up center in Japan. Subjects in this study are healthy adults between 30 and 60 years of age who have a family history of type 2 diabetes in their first degree relatives. Participants in the intervention group received a brief genetic counseling session for approximately 10 min. Genetic counseling was structured based on the Health Belief Model. Both intervention and control groups received a booklet for general diabetes prevention. Risk perception and recognition of diabetes, and attitude towards its prevention were measured at baseline, 1 week and 1 year after genetic counseling. Participants who received genetic counseling showed significantly higher recognition about their sense of control over diabetes onset than control group both at 1 week and 1 year after the session. On the other hand, anxiety about diabetes did not change significantly. The findings show that genetic counseling for diabetes at a medical check center helped adults with diabetes family history understand they are able to exert control over the onset of their disease through lifestyle modification.

Air Officer’s Education

DTIC Science & Technology

2012-08-01

variety and relationships of living organisms and the influences of heredity and environment in the evolution of life. A review of the field of science...by bold thinking done in the Air Force or not at all. The so-called Air Defense will not protect the United States and its productive plant from the...atomic bomb. It may be that this plant has to take on a different shape and for this reason economics in our sense of the term is a compulsory

Heredity and self-organization: partners in the generation and evolution of phenotypes.

PubMed

Malagon, Nicolas; Larsen, Ellen

2015-01-01

In this review we examine the role of self-organization in the context of the evolution of morphogenesis. We provide examples to show that self-organized behavior is ubiquitous, and suggest it is a mechanism that can permit high levels of biodiversity without the invention of ever-increasing numbers of genes. We also examine the implications of self-organization for understanding the "internal descriptions" of organisms and the concept of a genotype-phenotype map. Copyright © 2015 Elsevier Inc. All rights reserved.

Horticulture: the font for the baptism of genetics.

PubMed

Olby, R C

2000-10-01

This year marks the centenary of the rediscovery of the laws of heredity, and their introduction to the English-speaking world. Here I introduce the main events and the characters who figure in this story before turning to the task of this essay--to ask why it was that support in England for the emerging science of genetics, or Mendelism as it was then called, came chiefly from horticulture, and was only belatedly accepted into the mainstream of British academic biology.

Differential diagnosis and management of human-directed aggression in cats.

PubMed

Frank, Diane; Dehasse, Joel

2003-03-01

Human-directed aggression in cats should be evaluated as a multifactorial problem. It results from the combined actions of heredity, environment, learning, human social requirements (or needs), client interactions, lack of understanding of normal feline behavior, unrealistic client expectations, and lack of meeting the cat's basic ethologic needs. Managing human-directed aggression in cats encompasses the use of environmental modification, therapies, and, when and if needed, regulatory drugs so as to increase learning capabilities and adaptation and decrease danger to the human victims.

Nutrition meets heredity: a case of RNA-mediated transmission of acquired characters.

PubMed

Rassoulzadegan, Minoo; Cuzin, François

2018-04-01

RNA-based inheritance provides a reasonable hypothesis to explain multigenerational maintenance of the disease in the progeny of either a male or female parent suffering from the metabolic syndrome (obesity and type 2 diabetes) induced by abnormal diet. Although, it is still difficult to formulate a complete rational mechanism, study of inheritance is a most direct way to learn about the epigenetic control of gene expression and we wished to summarised our current approach along this line.

Low awareness of risk factors among bladder cancer survivors: New evidence and a literature overview.

PubMed

Westhoff, Ellen; Maria de Oliveira-Neumayer, Julia; Aben, Katja K; Vrieling, Alina; Kiemeney, Lambertus A

2016-06-01

Data on urinary bladder cancer (UBC) patients' perceptions about causes of bladder cancer is limited, while this may be important knowledge for health prevention and education. We evaluated self-reported perceptions and beliefs about the causes of bladder cancer among UBC survivors in the Netherlands. UBC survivors identified through the Netherlands Cancer Registry from 2007 to 2012 were invited to participate. Patients who consented were asked to fill out a questionnaire, including questions on lifestyle characteristics, occupational and medical history, and family history of cancer. The final question was 'You have been diagnosed with bladder cancer. Do you have any idea what may have been the cause of your cancer?'. Of the 1793 UBC survivors included, 366 (20%) reported a possible cause for their bladder cancer. The most frequently reported suspected causes were smoking (10%), occupational exposure (5%), and heredity (2%). Smoking, occupational exposure and heredity were mentioned only slightly more frequently by participants with these risk factors (11%, 8%, and 5%, respectively) compared to the total population. Most UBC survivors did not suspect any cause that might have contributed to the development of their cancer. Even among participants with established risk factors for bladder cancer, these risk factors were not commonly perceived. This finding probably reflects the superficial knowledge of risk factors for bladder cancer in the population and highlights the importance of effective education on cancer prevention. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

Exploring podcasting in heredity and evolution teaching.

PubMed

Almeida-Aguiar, Cristina; Carvalho, Ana Amélia

2016-09-10

Podcasts are digital files very popular in several and very distinct areas. In higher education, they have been explored in a multitude of ways mainly to support teaching and learning processes. The study here described focuses the integration of podcasts in Heredity and Evolution, a course from the Biology and Geology Degree Program at University of Minho, Portugal. It aimed to introduce podcasts in the teaching/learning context, to empirically study different dimensions of podcasting, and to evaluate students' acceptance and receptiveness to the pedagogical use of this technology. Five informative podcasts and three with feedback were produced and delivered. All the students listened to the audio files and considered the episodes audible and clear, their preference going to episodes of short or moderate length and containing summaries, study guidelines or syllabus contents. Students judged extremely valuable the integration of this technology in learning and showed receptiveness to podcasting in other courses. Curiously, in spite of owning mobile devices, students clearly favored the use of personal computers to listen to the podcasts. This student acceptance and openness to podcasting has been encouraging its pedagogical application in other teaching courses. The episodes produced often maintain the characteristics identified as the best by the students of this study but the pedagogical approach has been moving to a more student-centered learning situation, with students as podcasts producers. © 2016 by The International Union of Biochemistry and Molecular Biology, 44(5):429-432, 2016. © 2016 The International Union of Biochemistry and Molecular Biology.

[The heredity and the curvature of the nasal septum in the children].

PubMed

Yunusov, A S; Larina, L A

2018-01-01

The objective of the present study was to elucidate the role of genetic and environmental factors in the development of the curvature of the nasal septum in the children by means of the twin method. A total of 171 twins were examined during the study. They included 27 pairs of monozygotic (MZ) twins and 1 triplet. There were 87 boys and 84 girls. All of them were distributed by age as follows: group 1 (3-7 years) - 97 children, group II (8-11 years) - 34 children, group III (12-15 years) - 40 adolescents. Taken together, the members of these groups accounted for 56.7%, 19.9%, and 23.4% of the participants of the study respectively. The prevalence of the nasal septum curvature among the children born after multiple pregnancies (MZ and dizygotic (DZ) twins) with such ENT pathology as the curvature of the nasal septum was estimated at 68.5% and 47.6% respectively. The intraparallel correlation analysis showed that both twins of a MZ pair presented with the curvature of the nasal septum in 12 (30.7%) pairs. The study has demonstrated the statistically significant difference in the frequency of concurrence of the nasal septum curvature between MZ and DZ twins (p=0.005). It is concluded that the results of the study give evidence that heredity and genetic factors greatly contribute to the formation of the curvature of the nasal septum in the children.

[Correcting influence of vitamin E short chain derivatives on lipid peroxidation, liver cell membrane, and chromatin structure when rats are exposed to embichin].

PubMed

Kovalenko, V M; Byshovets', T F; Hubs'kyĭ, Iu I; Levyts'kyĭ, Ie L; Shaiakhmetova, H M; Marchenko, O M; Voloshyna, O S; Saĭfetdinova, H A; Okhrimenko, V O; Donchenko, H V

2000-01-01

Embikhin causes activation of LPO processes in endoplasmic reticulum and in nuclear chromatine fractions of rat liver cells. The latter is accompanied by the impairment of repressive and active nuclear chromatine fractions structure. Derivate of vitamin E in these conditions renders correcting action on parameters of lipid peroxidation in the investigated subcellular structures, testifying its positive influence on the cell heredity apparatus state. The normalizing action of tocopherol derivative on cytochromes P450 and b5 levels is shown.

Risk assessment of bronchial asthma development in children with atopic dermatitis

NASA Astrophysics Data System (ADS)

Vуsotska, Olena V.; Klymenko, Viktoriia A.; Trubitcin, Alexei A.; Pecherska, Anna I.; Savchuk, Tamara O.; Kolimoldayev, Maksat; Wójcik, Waldemar; Szatkowska, Małgorzata; Burlibay, Aron

2017-08-01

This article offers a risk assessment of bronchial asthma development in children with atopic dermatitis by applying fuzzy-set theory to accumulated statistical data. It is shown that with a view to executing the said task one should exercise a complex approach involving factors such as "IgE level", "existence of obstructions" and "burdened bronchial asthma heredity of immediate relatives". The obtained results will assist in making adequate and well-informed medical decisions as well as facilitate the decrease of the risk of developing bronchial asthma in children with atopic dermatitis.

Autoimmunity in endocrine diseases.

PubMed

Rose, N R; Burek, C L

1982-01-01

The realization that autoimmunity underlies many endocrine disorders of previously unknown etiology has greatly broadened our understanding of the pathogenesis of these diseases. It has provided new explanations for their heredity and their association with particular HLA haplotypes. It has also offered new tools for diagnosing these diseases as well as monitoring their course or predicting their outcome. Finally, establishing the autoimmune basis of these diseases offers new potential for their treatment. The next quarter century of research into immunologic aspects of endocrine diseases promises to be as fruitful as the last.

Brave new world revisited revisited: Huxley's evolving view of behaviorism

PubMed Central

Newman, Bobby

1992-01-01

Aldous Huxley's Brave New World has served as a popular and powerful source of antibehavioral sentiment. Several of Huxley's works are examined in order to ascertain his true thoughts regarding behaviorism. Early in his career Huxley failed to appreciate aspects of behavioral theory (e.g., an appreciation of heredity) or the good ends to which it could be employed. Huxley's later works portrayed behaviorism in a much more positive light, and he believed that behavioral science, along with spiritual enlightenment, might help save humanity from the Brave New World he predicted. PMID:22478115

[Essential hypertension in young people--ambulatory versus hospital care].

PubMed

Mitu, F; Leon, Maria-Magdalena

2012-01-01

Cardiovascular disease is the leading cause of death in our country. The number of young people with hypertension grow up quickly, so a good control of dyslipidemia and blood pressure (BP) is essential in prevention of cardiovascular disease. To investigate the prevalence of HTA at young people and established the corelation with another risk factors like smoke, colesterol, obesity and heredity, few data are available on the blood pressure characteristics of young patients. It has been investigate 366 young people between 19-25 years old, in ambulatory system and 350 younger with the same age, in hospital. Blood pressure was measured according to standard procedures, and was considered well-controlled if it was < 140/90 mm Hg. From our ambulatory patients were 198 women (54.1%), 168 men (45.9%) and from hospital were 178 women (50.9%) and 172 men (41.9%). HTA was present at 37 patients (10.1%) in ambulatory system and 50 patients (14.3%) in hospital. Between the intensity of smoke, the number of cigarette and the prevalence of HTA is a direct relation. The heredity factor is very important, too. The prevalence grow more than 2.5 at this patients. The incidence of HTA is 1.9 bigger at women with big values of colesterol and 2.1 at men with big colesterol. The relation between HTA--obesity is proven in our study, the incidence of HTA is 2.6 bigger at the obeses patients. These arguments should also promote further research in primary care on the control and the therapeutic behavior of the physicians.

The Allusion of the Gene: Misunderstandings of the Concepts Heredity and Gene

NASA Astrophysics Data System (ADS)

Falk, Raphael

2014-02-01

Life sciences became Biology, a formal scientific discipline, at the turn of the nineteenth century, when it adopted the methods of reductive physics and chemistry. Mendel's hypothesis of inheritance of discrete factors further introduced a quantitative reductionist dimension into biology. In 1910 Johannsen differentiated between the phenotype, which defines traits, and their genotype, the hereditary essence of such traits and their entities—the genes. The efforts to characterize these entities culminated in 1953, in Watson-Crick's physico-chemical double helix model of DNA, the hereditary matter. However, the more molecular biology advanced the less real were its entities: Genes became generic units of heredity. The increasing role of science in society, and the mutual interdependence of the two on each other augmented the urge of the public at large to find in science icons of authority; the generic nature of the gene concept allowed scientists to offer it as the bait, even though advances in research made it clear that a distinction must be maintained between advances in reductive methodologies and the progress of systems' conceptions. Genes out of context are meaningless. There are no "genes for" a trait: even if a specific change in a site on the DNA sequence may end in a conspicuous change in a trait, it must be realized that many sites in the DNA, in the cell, and in the organism as a complex integrated system in its environment, determine or rather, condition traits. The role of science is asking questions by putting up hypotheses and suggesting methods of testing them rather than in providing definite answers.

Influence of substrate preparation on the shaping of the topography of the surface of nanoceramic oxide layers

NASA Astrophysics Data System (ADS)

Bara, Marek; Kubica, Marek

2014-02-01

The paper discusses the shaping mechanism and changes occurring in the structure and topography of the surface of nanoceramic oxide layers during their formation. The paper presents the influence of substrate preparation on the surface topography of oxide layers. The layers were produced via hard anodizing on the EN AW-5251 aluminum alloy. The layers obtained were subjected to microscope examinations, image and chemical composition analyses, and stereometric examinations. Heredity of substrate properties in the topography of the surface of nanoceramic oxide layers formed as a result of electrochemical oxidation has been shown.

Mendel's Research Legacy in the Broader Historical Network

NASA Astrophysics Data System (ADS)

Orel, Vítězslav; Peaslee, Margaret H.

2015-01-01

This historical narrative describes the foundation of education as established by J. A. Comenius (1592-1670). It explores the transfer of Comenius' tenets, utilized and modified through the years, up to their impact upon the ground-breaking experiments of G. Mendel (1822-1884), `the father of genetics'. It explores the questions of heredity discussed among experts in the agricultural and natural sciences in the early 1800s and reviews the controversies and disputes that have occurred since Mendel was `rediscovered' in 1900. The value of studying the history of science as it impacts science today is underscored.

Practical Session: Simple Linear Regression

NASA Astrophysics Data System (ADS)

Clausel, M.; Grégoire, G.

2014-12-01

Two exercises are proposed to illustrate the simple linear regression. The first one is based on the famous Galton's data set on heredity. We use the lm R command and get coefficients estimates, standard error of the error, R2, residuals …In the second example, devoted to data related to the vapor tension of mercury, we fit a simple linear regression, predict values, and anticipate on multiple linear regression. This pratical session is an excerpt from practical exercises proposed by A. Dalalyan at EPNC (see Exercises 1 and 2 of http://certis.enpc.fr/~dalalyan/Download/TP_ENPC_4.pdf).

A Population-Based Study of Gastroesophageal Reflux Disease and Sleep Problems in Elderly Twins

PubMed Central

Lindam, Anna; Jansson, Catarina; Nordenstedt, Helena; Pedersen, Nancy L.; Lagergren, Jesper

2012-01-01

Background & Aims Previous studies indicate an association between sleep problems and gastroesophageal reflux disease (GERD). Although both these conditions separately have moderate heritabilities, confounding by genetic factors has not previously been taken into account. This study aimed to reveal the association between sleep problems and GERD, while adjusting for heredity and other potential confounding factors. Methods This cross-sectional population-based study included all 8,014 same-sexed twins of at least 65 years of age and born in Sweden between 1886 and 1958, who participated in telephone interviews in 1998–2002. Three logistic regression models were used 1) external control analysis, 2) within-pair co-twin analysis with dizygotic (DZ) twin pairs discordant for GERD, and 3) within-pair co-twin analysis with monozygotic (MZ) twin pairs discordant for GERD. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated and adjusted for established risk factors for GERD, i.e. sex, age, body mass index (BMI), tobacco smoking, and educational level. Results A dose-response association was identified between increasing levels of sleep problems and GERD in the external control analysis. Individuals who often experienced sleep problems had a two-fold increased occurrence of GERD compared to those who seldom had sleep problems (OR 2.0, 95% CI 1.8–2.4). The corresponding association was of similar strength in the co-twin analysis including 356 DZ pairs (OR 2.2, 95% CI 1.6–3.4), and in the co-twin analysis including 210 MZ pairs (OR 1.5, 95% CI 0.9–2.7). Conclusion A dose-dependent association between sleep problems and GERD remains after taking heredity and other known risk factors for GERD into account. PMID:23119069

Storytelling, statistics and hereditary thought: the narrative support of early statistics.

PubMed

López-Beltrán, Carlos

2006-03-01

This paper's main contention is that some basically methodological developments in science which are apparently distant and unrelated can be seen as part of a sequential story. Focusing on general inferential and epistemological matters, the paper links occurrences separated by both in time and space, by formal and representational issues rather than social or disciplinary links. It focuses on a few limited aspects of several cognitive practices in medical and biological contexts separated by geography, disciplines and decades, but connected by long term transdisciplinary representational and inferential structures and constraints. The paper intends to show a given set of knowledge claims based on organizing statistically empirical data can be seen to have been underpinned by a previous, more familiar, and probably more natural, narrative handling of similar evidence. To achieve that this paper moves from medicine in France in the late eighteenth and early nineteenth century to the second half of the nineteenth century in England among gentleman naturalists, following its subject: the shift from narrative depiction of hereditary transmission of physical peculiarities to posterior statistical articulations of the same phenomena. Some early defenders of heredity as an important (if not the most important) causal presence in the understanding of life adopted singular narratives, in the form of case stories from medical and natural history traditions, to flesh out a special kind of causality peculiar to heredity. This work tries to reconstruct historically the rationale that drove the use of such narratives. It then shows that when this rationale was methodologically challenged, its basic narrative and probabilistic underpinings were transferred to the statistical quantificational tools that took their place.

Human Heredity and Health (H3) in Africa Kidney Disease Research Network: A Focus on Methods in Sub-Saharan Africa.

PubMed

Osafo, Charlotte; Raji, Yemi Raheem; Burke, David; Tayo, Bamidele O; Tiffin, Nicki; Moxey-Mims, Marva M; Rasooly, Rebekah S; Kimmel, Paul L; Ojo, Akinlolu; Adu, Dwomoa; Parekh, Rulan S

2015-12-07

CKD affects an estimated 14% of adults in sub-Saharan Africa, but very little research has been done on the cause, progression, and prevention of CKD there. As part of the Human Heredity and Health in Africa (H3Africa) Consortium, the H3Africa Kidney Disease Research Network was established to study prevalent forms of kidney disease in sub-Saharan Africa and increase the capacity for genetics and genomics research. The study is performing comprehensive phenotypic characterization and analyzing environmental and genetic factors from nine clinical centers in four African countries (Ghana, Nigeria, Ethiopia, and Kenya) over a 5-year period. Approximately 4000 participants with specified kidney disease diagnoses and 4000 control participants will be enrolled in the four African countries. In addition, approximately 50 families with hereditary glomerular disease will be enrolled. The study includes both pediatric and adult participants age <1 to 74 years across a broad spectrum of kidney diseases secondary to hypertension-attributed nephropathy, diabetes, HIV infection, sickle cell disease, biopsy-proven glomerular disease, and CKD of unknown origin. Clinical and demographic data with biospecimens are collected to assess clinical, biochemical, and genetic markers of kidney disease. As of March 2015, a total of 3499 patients and controls have been recruited and 1897 had complete entry data for analysis. Slightly more than half (50.2%) of the cohort is female. Initial quality control of clinical data collection and of biosample and DNA analysis is satisfactory, demonstrating that a clinical research infrastructure can be successfully established in Africa. This study will provide clinical, biochemical, and genotypic data that will greatly increase the understanding of CKD in sub-Saharan Africa. Copyright © 2015 by the American Society of Nephrology.

Stuttering in adults: the acoustic startle response, temperamental traits, and biological factors.

PubMed

Alm, Per A; Risberg, Jarl

2007-01-01

The purpose of this study was to investigate the relation between stuttering and a range of variables of possible relevance, with the main focus on neuromuscular reactivity, and anxiety. The explorative analysis also included temperament, biochemical variables, heredity, preonset lesions, and altered auditory feedback (AAF). An increased level of neuromuscular reactivity in stuttering adults has previously been reported by [Guitar, B. (2003). Acoustic startle responses and temperament in individuals who stutter. Journal of Speech Language and Hearing Research, 46, 233-240], also indicating a link to anxiety and temperament. The present study included a large number of variables in order to enable analysis of subgroups and relations between variables. Totally 32 stuttering adults were compared with nonstuttering controls. The acoustic startle eyeblink response was used as a measure of neuromuscular reactivity. No significant group difference was found regarding startle, and startle was not significantly correlated with trait anxiety, stuttering severity, or AAF. Startle was mainly related to calcium and prolactin. The stuttering group had significantly higher scores for anxiety and childhood ADHD. Two subgroups of stuttering were found, with high versus low traits of childhood ADHD, characterized by indications of preonset lesions versus heredity for stuttering. The study does not support the view that excessive reactivity is a typical characteristic of stuttering. The increased anxiety is suggested to mainly be an effect of experiences of stuttering. As a result of reading this article, the reader will be able to: (a) critically discuss the literature regarding stuttering in relation to acoustic startle, anxiety, and temperament; (b) describe the effect of calcium on neuromuscular reactivity; (c) discuss findings supporting the importance of early neurological incidents in some cases of stuttering, and the relation between such incidents and traits of ADHD or ADD; and (d) discuss the role of genetics in stuttering.

Different biogenetic causal explanations and attitudes towards persons with major depression, schizophrenia and alcohol dependence: is the concept of a chemical imbalance beneficial?

PubMed

Speerforck, Sven; Schomerus, Georg; Pruess, Susanne; Angermeyer, Matthias C

2014-10-01

It is unclear whether different biogenetic causal beliefs affect stigmatization of mentally-ill patients differently. It has been argued that in particular believing in a 'chemical imbalance' as a cause of mental disorder might be associated with more tolerant attitudes. In a representative population survey in Germany (n=3642), using unlabelled case vignettes of persons with depression, schizophrenia, or alcohol dependence, we elicited agreement with three different biogenetic explanations of the illness: 'Chemical imbalance of the brain', 'brain disease' and 'heredity'. We further investigated emotional reactions as well as the desire for social distance. For each vignette condition we calculated linear regressions with each biogenetic explanation as independent and emotional reactions as well as social distance as dependent variable controlling for socio-demographic variables. Our cross-sectional study does not allow statements regarding causality and the explanatory power of our statistical models was low. 'Chemical imbalance of the brain' and 'brain disease' were both associated with a stronger desire for social distance in schizophrenia and depression, and with more social acceptance in alcohol dependence, whereas 'heredity' was not significantly associated with social distance in any of the investigated illnesses. All three biogenetic causal beliefs were associated with more fear in all three illnesses. Our study corroborates findings that biogenetic explanations have different effects in different disorders, and seem to be harmful in depression and schizophrenia. A particular de-stigmatizing potential of the causal belief 'chemical imbalance' could not be found. Implications for useful anti-stigma messages are discussed. Copyright © 2014 Elsevier B.V. All rights reserved.

Infant wheeze, comorbidities and school age asthma.

PubMed

Neuman, Asa; Bergström, Anna; Gustafsson, Per; Thunqvist, Per; Andersson, Niklas; Nordvall, Lennart; Kull, Inger; Wickman, Magnus

2014-06-01

Factors associated with early onset of wheeze have been described, but there is limited knowledge on which of these infant wheezers who will have developed asthma in school age. The aim was to identify clinical risk factors for asthma in the 8-yr-old children that wheezed during infancy in a population-based setting. Three thousand two hundred and fifty-one children from a population-based birth cohort followed prospectively from infancy until age 8 yr were included in the study. Data were analyzed using multivariate logistic regression analysis. Parents reported any wheeze episode before age 2 yr in 823 subjects (25%). Infant wheezers had an almost fourfold risk of asthma at age 8 [adjusted odds ratio (aOR) 3.68, 95% CI 2.74-4.96], equivalent to an asthma prevalence of 14% compared with 4% among non-wheezers (p < 0.001). After adjustments for sex, exposure to tobacco smoke and indoor dampness/mould, allergic heredity (aOR 1.53, 95% CI 1.02-2.30), increased frequency of wheeze (aOR 3.41, 95% CI 2.09-5.56 for children with ≥3 episodes compared with ≤2 episodes during the first 2 yr of life), infant eczema (aOR 2.31, 95% CI 1.52-3.49), and recurrent abdominal pain (aOR 2.33, 95% CI 1.30-4.16) remained risk factors for school age asthma in the infant wheezing group. Among infant wheezers, allergic heredity, increased severity of wheeze, infant eczema, and recurrent abdominal pain were independent risk factors for asthma at age 8 yr. Among children with three or four of these risk factors, 38% had asthma at school age. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Darwin's legacy II: why biology is not physics, or why it has taken a century to see the dependence of genes on the environment.

PubMed

Singh, Rama S

2015-01-01

Genes and environment make the organism. Darwin stood firm in his denial of any direct role of environment in the modification of heredity. His theory of evolution heralded two debates: one about the importance and adequacy of natural selection as the main mechanism of evolution, and the other about the role of genes versus environment in the modification of phenotype and evolution. Here, I provide an overview of the second debate and show that the reasons for the gene versus environment battle were twofold: first, there was confusion about the role of environment in modifying the inheritance of a trait versus the evolution of that trait, and second, there was misunderstanding about the meaning of environment and its interaction with genes in the production of phenotypes. It took nearly a century to see that environment does not directly affect the inheritance of a phenotype (i.e., its heredity), but it is nevertheless the primary mover of phenotypic evolution. Effects of genes and environment are not separate but interdependent. One cannot separate the effect of genes from that of environment, or nature from nurture. To answer the question posed in the title, it is partly because the 20th century has been a century of unending progress in genetics. But also because unlike physics, biology is not colorblind; progress in biology has often been delayed beyond the Kuhnian paradigm change due to built-in interest in negating the influence of environment. Those who are against evolution, of course, cannot be expected to understand the role of environment in evolution. Those for it, many biologists included, believing in the supremacy of genes empowers them by giving adaptation a solely gene-directed (self-driven) "teleological" interpretation.

Influence of ultrasonic sound on physico-mechanical characteristics of titanium alloys

NASA Astrophysics Data System (ADS)

Akushskaya, O. M.; Papsheva, N. D.

2018-03-01

The paper presents data on the influence of ultrasonic vibrations on the main physico-mechanical characteristics in the hardening of titanium alloys. Hardening was carried out during rolling and using free balls in a special working chamber with the imposition of ultrasonic vibrations. The studies have shown that ultrasonic hardening of titanium alloys promotes crushing blocks of mosaic and the formation of a fine-grain structure with a high density of dislocations, changes the phase composition of the surface layer and causes the formation of compressive residual stresses. At the same time, technological heredity is practically not manifested. The endurance range of titanium alloys increases.

Down subjects and Oriental population share several specific attitudes and characteristics.

PubMed

Mafrica, Federica; Fodale, Vincenzo

2007-01-01

Down's syndrome is characterized not only by a typical "habitus", mental retardation of variable gravity and several alterations of the cardiovascular, respiratory, gastrenteric and immunitary system, but also by specific attitudes and characteristics that are in common with the Oriental population. Starting from the origin of the term mongolism, replaced with other terms such as Trisomy 21, Down's syndrome, and anomaly of Down because of the racist use made in the last century, we propose, in the light of modern knowledge about the heredity of features, a reflection on those aspects and attitudes which highlight a very particular twinning between a Down person and Asiatic peoples.

Evolutions of lamellar structure during melting and solidification of Fe9577 nanoparticle from molecular dynamics simulations

NASA Astrophysics Data System (ADS)

Wu, Yongquan; Shen, Tong; Lu, Xionggang

2013-03-01

A structural evolution during solidification and melting processes of nanoparticle Fe9577 was investigated from MD simulations. A perfect lamellar structure, consisting alternately of fcc and hcp layers, was obtained from solidification process. A structural heredity of early embryo is proposed to explain the structural preference of solidification. Defects were found inside the solid core and play the same role as surface premelting on melting. hcp was found more stable than fcc in high temperature. The difference between melting and solidification points can be deduced coming fully from the overcoming of thermodynamic energy barrier, instead of kinetic delay of structural relaxation.

PubMed, The New York Times and The Chicago Tribune as Tools for Teaching Genetics

PubMed Central

Strauss, Bernard S.

2005-01-01

An elementary course in human heredity for students not planning to major in the sciences can be based on current scientific literature and on the popular media. Examinations are constructed from questions on recent abstracts obtained from PubMed. The course is designed to promote writing skills in the sciences, and students write two papers in the course of a quarter. In the first paper, students trace the primary source of media reports on genetics and attempt to evaluate the reporter's translation. In a second paper, students write popular articles on the basis of current primary sources. PMID:16143615

Neurology was there in 1865.

PubMed

Tyler, H R

1998-10-01

In 1865 Americans saw the end of the Civil War, and their president, Abraham Lincoln, was assassinated. Slavery was abolished by the Thirteenth Amendment. The Atlantic cable linking Europe and the United States was completed. Bismarck and Napoleon III had a meeting resulting in Prussian supremacy in Germany. Lister had shown that antiseptic surgery was feasible and great surgical advances were made possible. Maxwell published his treatise defining the laws that related electricity to magnetism. Mendel's laws of heredity were formulated, and Pasteur saved the silk industry by curing silkworm disease. Alice in Wonderland was written by Lewis Carroll; Twain, Whitman, Homer, Inness, Wagner, and Rimsky-Korsakov all added to our cultural heritage.

Skin Color in the Development of Identity: A Biopsychosocial Model

PubMed Central

Fullilove, Mindy Thompson; Reynolds, Tyrone

1984-01-01

The role of skin color in the development of identity has been studied by a variety of paradigms. This paper applies the biopsychosocial model to this problem, with the hope that systems hierarchies offer a way to understand how many variables have an impact on a single point. This model postulates that complex social interactions are the life setting for the individual whose development also reflects biological endowment, including the contributions of heredity and nurturance. The final personal integration of an adult understanding of skin color requires an active assertion by the individual. This model is explored through the writings of Jessie Fauset, a leading participant in the literary movement known as the Harlem Renaissance. PMID:6748102

The role of genealogy and clinical family histories in documenting possible inheritance patterns for diabetes mellitus in the pre-insulin era: part 1. The clinical case of Josephine Imperato.

PubMed

Imperato, Pascal James; Imperato, Gavin H

2009-10-01

Establishing the role of heredity in type 2 diabetes mellitus (type 2 DM) is challenging. While type 2 DM frequently displays a pattern of familial aggregation, many other risk factors are responsible for the clinical expression of the disease. This paper reviews a number of the early twentieth-century studies of inheritance patterns for type 2 DM and presents in detail the history of Josephine Foniciello Imperato (Maria Giuseppa Foniciello) who died from the disease in New York City at the age of 52 years on 14 November 1921, ten months before commercial insulin became available.

Conference report "Stoffwechsel. Histories of metabolism", workshop organized by Mathias Grote at Technische Universität Berlin, November 28-29th, 2014.

PubMed

Grote, Mathias; Keuck, Lara

2015-06-01

Historical analyses of what metabolism has been conceived of, how concepts of metabolism were related to disciplines such as nineteenth-century nutritional physiology or twentieth-century biochemistry, and how their genealogies relate to the current developments may be helpful to understand the various, at times polemic, ways in which the boundaries between metabolism and heredity have been re-drawn. Against this background, a small number of scholars gathered in Berlin for a workshop that equally aimed at bringing new stories to the fore, and at considering seemingly known ones in a new light. Some aspects of the discussions are summarized in this paper.

Variations and heredity in bacterial colonies

PubMed Central

Čepl, Jaroslav; Blahůšková, Anna; Neubauer, Zdeněk; Markoš, Anton

2016-01-01

ABSTRACT Spontaneous variation in appearance was studied in bacterial colonies of Serratia marcescens F morphotype1: (i) A defined array of non-heritable phenotype variations does appear repeatedly; (ii) The presence of colonies of different bacterial species will narrow the variability toward the typical F appearance, as if such an added environmental factor curtailed the capacity of colony morphospace; (iii) Similarly the morphospace becomes reduced by random mutations leading to new, heritable morphotypes—at the same time opening a new array of variations typical for the mutant but not accessible directly from the original F morphospace. Results are discussed in context with biphasic model of early morphogenesis applicable to all multicellular bodies. PMID:28042382

Kurt Gottschaldt's ambiguous relationship with national socialism.

PubMed

Mastroianni, George R

2006-02-01

Kurt Gottschaldt (1902-1991) was active in psychological research in Germany throughout much of the past century. His best-known contributions relate to three "twin camps" he ran in the late 1930s. These twin camps were designed help assess the relative contributions of heredity and environment in determining the development of psychological attributes and behavior. Gottschaldt's conclusions favored a hereditarian interpretation of his results, and Gottschaldt promoted the relevance of his twin research to "race psychology." Although Gottschaldt is sometimes described as a defender of scientific objectivity who maintained independence from Nazi ideology during the National Socialist era, some of his work suggests that a modest revision of this view may be required.

Connecting Cancer to Its Causes Requires Incorporation of Effects on Tissue Microenvironments.

PubMed

DeGregori, James

2017-11-15

In a recent article in Science , Tomasetti and colleagues present an expanded model for cancer risk, which they claim demonstrates the relative contribution of mutations caused by replication errors, environment, and heredity. The foundation of this model is the theory that the overwhelming driver of cancer risk is mutations. This perspective will present experimental evidence and evolutionary theory to challenge the basis of this underlying theory. An argument will be presented that the mutation-centric model of cancer suggests unrealistic solutions to cancer and distracts the research community from more promising approaches that consider tissue context. Cancer Res; 77(22); 6065-8. ©2017 AACR . ©2017 American Association for Cancer Research.

Theories of genetics and evolution and the development of medical entomology in France (1900-1939).

PubMed

Gachelin, G; Opinel, A

2008-12-01

The development of entomology and medical entomology in France is discussed in the context of the prevalence of Lamarckian ideas concerning heredity and evolution. Lamarckian ideas have greatly influenced research carried out at the Institut Pasteur by Emile Roubaud and more generally in Felix Mesnil's laboratory, as well as research in general entomology at the Museum national d'histoire naturelle. By contrast, it did not influence research and teaching at the Faculté de médecine of Paris or that of physicians more generally including those in overseas Instituts Pasteur, which clearly kept away from theoretical discussion concerning the origin of variations and adaptation in insects of medical interest.

Tinkering with meiosis

PubMed Central

Crismani, Wayne; Girard, Chloé; Mercier, Raphael

2013-01-01

Meiosis is at the heart of Mendelian heredity. Recently, much progress has been made in the understanding of this process, in various organisms. In the last fifteen years, the functional characterization of numerous genes involved in meiosis has dramatically deepened our knowledge of key events, including recombination, cell cycle and chromosome distribution. Through a constantly advancing tool set and knowledge base, a number of advances have been made that will allow manipulation of meiosis from a plant breeding perspective. This review focuses on the aspects of meiosis that can be tinkered with to create and propagate new varieties. We would like to dedicate this review to the memory of Simon W. Chan (1974-2012) http://www.plb.ucdavis.edu/labs/srchan/ PMID:23136169

Making Heredity Matter: Samuel Butler's Idea of Unconscious Memory.

PubMed

Turbil, Cristiano

2018-03-01

Butler's idea of evolution was developed over the publication of four books, several articles and essays between 1863 and 1890. These publications, although never achieving the success expected by Butler, proposed a psychological elaboration of evolution (robustly enforced by Lamarck's philosophy), called 'unconscious memory'. This was strongly in contrast with the materialistic approach suggested by Darwin's natural selection. Starting with a historical introduction, this paper aspires to ascertain the logic, meaning and significance of Butler's idea of 'unconscious memory' in the post-Darwinian physiological and psychological Pan-European discussion. Particular attention is devoted to demonstrating that Butler was not only a populariser of science but also an active protagonist in the late Victorian psychological debate.

Generalization of exponential based hyperelastic to hyper-viscoelastic model for investigation of mechanical behavior of rate dependent materials.

PubMed

Narooei, K; Arman, M

2018-03-01

In this research, the exponential stretched based hyperelastic strain energy was generalized to the hyper-viscoelastic model using the heredity integral of deformation history to take into account the strain rate effects on the mechanical behavior of materials. The heredity integral was approximated by the approach of Goh et al. to determine the model parameters and the same estimation was used for constitutive modeling. To present the ability of the proposed hyper-viscoelastic model, the stress-strain response of the thermoplastic elastomer gel tissue at different strain rates from 0.001 to 100/s was studied. In addition to better agreement between the current model and experimental data in comparison to the extended Mooney-Rivlin hyper-viscoelastic model, a stable material behavior was predicted for pure shear and balance biaxial deformation modes. To present the engineering application of current model, the Kolsky bars impact test of gel tissue was simulated and the effects of specimen size and inertia on the uniform deformation were investigated. As the mechanical response of polyurea was provided over wide strain rates of 0.0016-6500/s, the current model was applied to fit the experimental data. The results were shown more accuracy could be expected from the current research than the extended Ogden hyper-viscoelastic model. In the final verification example, the pig skin experimental data was used to determine parameters of the hyper-viscoelastic model. Subsequently, a specimen of pig skin at different strain rates was loaded to a fixed strain and the change of stress with time (stress relaxation) was obtained. The stress relaxation results were revealed the peak stress increases by applied strain rate until the saturated loading rate and the equilibrium stress with magnitude of 0.281MPa could be reached. Copyright © 2017 Elsevier Ltd. All rights reserved.

Why are children in the same family so different from one another?*

PubMed Central

Plomin, Robert; Daniels, Denise

2011-01-01

Summary One of the most important findings that has emerged from human behavioral genetics involves the environment rather than heredity, providing the best available evidence for the importance of environmental influences on personality, psychopathology, and cognition. The research also converges on the remarkable conclusion that these environmental influences make two children in the same family as different from one another as are pairs of children selected randomly from the population. The theme of the target article is that environmental differences between children in the same family (called “nonshared environment”) represent the major source of environmental variance for personality, psychopathology, and cognitive abilities. One example of the evidence that supports this conclusion involves correlations for pairs of adopted children reared in the same family from early in life. Because these children share family environment but not heredity, their correlation directly estimates the importance of shared family environment. For most psychological characteristics, correlations for adoptive “siblings” hover near zero, which implies that the relevant environmental influences are not shared by children in the same family. Although it has been thought that cognitive abilities represent an exception to this rule, recent data suggest that environmental variance that affects IQ is also of the nonshared variety after adolescence. The article has three goals: (1) To describe quantitative genetic methods and research that lead to the conclusion that nonshared environment is responsible for most environmental variation relevant to psychological development, (2) to discuss specific nonshared environmental influences that have been studied to date, and (3) to consider relationships between nonshared environmental influences and behavioral differences between children in the same family. The reason for presenting this article in BBS is to draw attention to the far-reaching implications of finding that psychologically relevant environmental influences make children in a family different from, not similar to, one another. PMID:21807642

Why are children in the same family so different from one another?

PubMed

Plomin, Robert; Daniels, Denise

2011-06-01

One of the most important findings that has emerged from human behavioral genetics involves the environment rather than heredity, providing the best available evidence for the importance of environmental influences on personality, psychopathology, and cognition. The research also converges on the remarkable conclusion that these environmental influences make two children in the same family as different from one another as are pairs of children selected randomly from the population. The theme of the target article is that environmental differences between children in the same family (called "nonshared environment") represent the major source of environmental variance for personality, psychopathology, and cognitive abilities. One example of the evidence that supports this conclusion involves correlations for pairs of adopted children reared in the same family from early in life. Because these children share family environment but not heredity, their correlation directly estimates the importance of shared family environment. For most psychological characteristics, correlations for adoptive "siblings" hover near zero, which implies that the relevant environmental influences are not shared by children in the same family. Although it has been thought that cognitive abilities represent an exception to this rule, recent data suggest that environmental variance that affects IQ is also of the nonshared variety after adolescence. The article has three goals: (1) To describe quantitative genetic methods and research that lead to the conclusion that nonshared environment is responsible for most environmental variation relevant to psychological development, (2) to discuss specific nonshared environmental influences that have been studied to date, and (3) to consider relationships between nonshared environmental influences and behavioral differences between children in the same family. The reason for presenting this article in BBS is to draw attention to the far-reaching implications of finding that psychologically relevant environmental influences make children in a family different from, not similar to, one another.

It's not just physical: a qualitative study regarding the illness experiences of people with facioscapulohumeral muscular dystrophy.

PubMed

Bakker, Minne; Schipper, Karen; Geurts, Alexander C; Abma, Tineke A

2017-05-01

Little is known about the illness experiences of people with Facioscapulohumeral Muscular Dystrophy (FSHD). The aim of this study was to provide insight into the illness experiences of people with FSHD in order to tailor rehabilitation programs to individual needs and expectations. Twenty-five semi-structured interviews were conducted with people with FSHD. The interviews were audiotaped, transcribed and member checked. Computerized (MAXqda) and manual techniques were used for thematic data analysis. Intra- as well as extra-individual aspects play a role in the illness experiences of people with FSHD. Integrating the consequences of the diagnosis and symptoms, coping with heredity and progenity, adjusting to a decreasing independence, and the accompanying changing relationship with one's partner, are mentioned as intra-individual aspects. As extra-individual factors are the responses of the social environment, which was mentioned as well as used assistive devices, and maintaining or giving up work. Better understanding of the individual illness experiences, cognitions, and social context of people with FSHD can give health professionals tools to improve their care and give researchers direction for future studies to evaluate healthcare improvements from a holistic, patient-centred perspective. Implications for Rehabilitation FSHD has a major impact on people's lives. Besides the physical consequences, issues such as heredity, progenity, changing (intimate) relationships, social interactions and work should be addressed by rehabilitation professionals. Dependent on the timing of the diagnosis (early or later in life) people with FSHD could, in addition to medical consultation and physical therapy, profit from support by a social worker, occupational therapist and/or genetic Counselor for the above-mentioned themes to be addressed more extensively. It is relevant for rehabilitation professionals to become familiar with the personal characteristics and social circumstances of the patient before communicating the diagnosis and prognosis in order to individually tailor the content of the communication.

Opinion evolution in different social acquaintance networks.

PubMed

Chen, Xi; Zhang, Xiao; Wu, Zhan; Wang, Hongwei; Wang, Guohua; Li, Wei

2017-11-01

Social acquaintance networks influenced by social culture and social policy have a great impact on public opinion evolution in daily life. Based on the differences between socio-culture and social policy, three different social acquaintance networks (kinship-priority acquaintance network, independence-priority acquaintance network, and hybrid acquaintance network) incorporating heredity proportion p h and variation proportion p v are proposed in this paper. Numerical experiments are conducted to investigate network topology and different phenomena during opinion evolution, using the Deffuant model. We found that in kinship-priority acquaintance networks, similar to the Chinese traditional acquaintance networks, opinions always achieve fragmentation, resulting in the formation of multiple large clusters and many small clusters due to the fact that individuals believe more in their relatives and live in a relatively closed environment. In independence-priority acquaintance networks, similar to Western acquaintance networks, the results are similar to those in the kinship-priority acquaintance network. In hybrid acquaintance networks, similar to the Chinese modern acquaintance networks, only a few clusters are formed indicating that in modern China, opinions are more likely to reach consensus on a large scale. These results are similar to the opinion evolution phenomena in modern society, proving the rationality and applicability of network models combined with social culture and policy. We also found a threshold curve p v +2p h =2.05 in the results for the final opinion clusters and evolution time. Above the threshold curve, opinions could easily reach consensus. Based on the above experimental results, a culture-policy-driven mechanism for the opinion dynamic is worth promoting in this paper, that is, opinion dynamics can be driven by different social cultures and policies through the influence of heredity and variation in interpersonal relationship networks. This finding is of great significance for predicting opinion evolution under different acquaintance networks and formulating reasonable policies based on cultural characteristics to guide public opinion.

Opinion evolution in different social acquaintance networks

NASA Astrophysics Data System (ADS)

Chen, Xi; Zhang, Xiao; Wu, Zhan; Wang, Hongwei; Wang, Guohua; Li, Wei

2017-11-01

Social acquaintance networks influenced by social culture and social policy have a great impact on public opinion evolution in daily life. Based on the differences between socio-culture and social policy, three different social acquaintance networks (kinship-priority acquaintance network, independence-priority acquaintance network, and hybrid acquaintance network) incorporating heredity proportion ph and variation proportion pv are proposed in this paper. Numerical experiments are conducted to investigate network topology and different phenomena during opinion evolution, using the Deffuant model. We found that in kinship-priority acquaintance networks, similar to the Chinese traditional acquaintance networks, opinions always achieve fragmentation, resulting in the formation of multiple large clusters and many small clusters due to the fact that individuals believe more in their relatives and live in a relatively closed environment. In independence-priority acquaintance networks, similar to Western acquaintance networks, the results are similar to those in the kinship-priority acquaintance network. In hybrid acquaintance networks, similar to the Chinese modern acquaintance networks, only a few clusters are formed indicating that in modern China, opinions are more likely to reach consensus on a large scale. These results are similar to the opinion evolution phenomena in modern society, proving the rationality and applicability of network models combined with social culture and policy. We also found a threshold curve pv+2 ph=2.05 in the results for the final opinion clusters and evolution time. Above the threshold curve, opinions could easily reach consensus. Based on the above experimental results, a culture-policy-driven mechanism for the opinion dynamic is worth promoting in this paper, that is, opinion dynamics can be driven by different social cultures and policies through the influence of heredity and variation in interpersonal relationship networks. This finding is of great significance for predicting opinion evolution under different acquaintance networks and formulating reasonable policies based on cultural characteristics to guide public opinion.

A review of sleepwalking (somnambulism): the enigma of neurophysiology and polysomnography with differential diagnosis of complex partial seizures.

PubMed

Hughes, John R

2007-12-01

The goal of this report is to review all aspects of sleepwalking (SW), also known as somnambulism. Various factors seem to initiate SW, especially drugs, stress, and sleep deprivation. As an etiology, heredity is important, but other conditions include thyrotoxicosis, stress, and herpes simplex encephalitis. Psychological characteristics of sleepwalkers often include aggression, anxiety, panic disorder, and hysteria. Polysomnographic characteristics emphasize abnormal deep sleep associated with arousal and slow wave sleep fragmentation. In the differential diagnosis, the EEG is important to properly identify a seizure disorder, rather than SW. Associated disorders are Tourette's syndrome, sleep-disordered breathing, and migraine. Various kinds of treatment are discussed, as are legal considerations, especially murder during sleepwalking.

Dynamic Ising model: reconstruction of evolutionary trees

NASA Astrophysics Data System (ADS)

de Oliveira, P. M. C.

2013-09-01

An evolutionary tree is a cascade of bifurcations starting from a single common root, generating a growing set of daughter species as time goes by. ‘Species’ here is a general denomination for biological species, spoken languages or any other entity which evolves through heredity. From the N currently alive species within a clade, distances are measured through pairwise comparisons made by geneticists, linguists, etc. The larger is such a distance that, for a pair of species, the older is their last common ancestor. The aim is to reconstruct the previously unknown bifurcations, i.e. the whole clade, from knowledge of the N(N - 1)/2 quoted distances, which are taken for granted. A mechanical method is presented and its applicability is discussed.

In between mental evolution and unconscious memory: Lamarckism, Darwinism, and professionalism in late Victorian Britain.

PubMed

Turbil, Cristiano

2017-09-01

In 1884 Samuel Butler published a collection of essays entitled Remarks on George Romanes' Mental Evolution, where he attempted to show how Romanes' idea of mental evolution presented similarities with his theory of unconscious memory. By looking at Romanes' work through Butler's writing, this article will reevaluate some aspects of their works regarding the complex debate about memory, heredity, and instinct. This paper will explore the main differences and similarities between Romanes' science and Butler's writing on science both in terms of their ideas and contents. It will then look into their different professional relationships with Darwin and how this determined the professional and public reception of their theories. © 2017 Wiley Periodicals, Inc.

Computerisation of diabetic clinic records.

PubMed Central

Watkins, G B; Sutcliffe, T; Pyke, D A; Watkins, P J

1980-01-01

A simple system for putting diabetic records on a computer file is achieved by using stationery that combines the usual handwritten records (not computerised) with the minimum of essential data suitable for punching on to computer tape. The record may be brought up to date at a selected time time interval. This simple, cheap system has been in use in a busy clinic for six years. The information on about 8000 diabetics now held in the computer file is used chiefly to help research by creating registers of patients with specified characteristics, such as treatment, heredity complications, and pregnancy. A complete up-to-date index of the entire clinic population is always available, and routine clinic statistics are returned every six months. PMID:7437814

Bad habits and bad genes: early 20th-century eugenic attempts to eliminate syphilis and associated "defects" from the United States.

PubMed

Wilson, Philip K

2003-01-01

American eugenists in the early 20th century distinguished "degenerates," including syphilitics, prostitutes, alcoholics and criminals, from the "normal" population by their particular bad habits. From eugenists' viewpoint, these bad habits were derived from bad character, a flaw that stemmed from an individual's bad genes. This essay explores how eugenists during this period characterized syphilitics and those with associated character "defects" in terms of heredity. Additionally, it examines the methods eugenists most frequently advocated to rectify these bad habits. These methods included marriage restriction, immigration control and reproductive sterilization. Overall, eugenists directed their efforts not so much at the "degenerate" as at his or her germ line.

Conscientiousness: Origins in Childhood?

PubMed Central

Eisenberg, Nancy; Duckworth, Angela L.; Spinrad, Tracy L.; Valiente, Carlos

2012-01-01

In this review, we evaluate developmental and personality research with the aim of determining if the personality trait of conscientiousness can be identified in children and adolescents. After concluding that conscientiousness does emerge in childhood, we discuss the developmental origins of conscientiousness with a specific focus on self-regulation, academic motivation, and internalized compliance/internalization of standards. Based on the accumulated body of evidence, we conclude that self-regulation fosters conscientiousness later in life, both directly and via academic motivation and internalized compliance with norms. We argue that elements of conscientiousness are evident by early childhood, self-regulation skills are likely a core developmental component of conscientiousness, and despite the contribution of heredity to the aforementioned aspects of functioning, environmental factors likely contribute to conscientiousness. PMID:23244405

What is behind "centromere repositioning"?

PubMed

Schubert, Ingo

2018-06-01

An increasing number of observations suggest an evolutionary switch of centromere position on monocentric eukaryotic chromosomes which otherwise display a conserved sequence of genes and markers. Such observations are particularly frequent for primates and equidae (for review see Heredity 108:59-67, 2012) but occur also in marsupials (J Hered 96:217-224, 2005) and in plants (Chromosome Res 25:299-311, 2017 and references therein). The actual mechanism(s) behind remained unclear in many cases (Proc Natl Acad Sci USA 101:6542-6547, 2004; Trends Genet 30:66-74, 2014). The same is true for de novo centromere formation on chromosomes lacking an active centromere. This article focuses on recent reports on centromere repositioning and possible mechanisms behind and addresses open questions.

Transforming Better Babies into Fitter Families: archival resources and the history of American eugenics movement, 1908-1930.

PubMed

Selden, Steven

2005-06-01

In the early 1920s, determinist conceptions of biology helped to transform Better Babies contest into Fitter Families competitions with a strong commitment to controlled human breeding. While the earlier competitions were concerned for physical and mental standards, the latter contests collected data on a broad range of presumed hereditary characters. The complex behaviors thought to be determined by one's heredity included being generous, jealous, and cruel. In today's context, the popular media often interpret advances in molecular genetics in a similarly reductive and determinist fashion. This paper argues that such a narrow interpretation of contemporary biology unnecessarily constrains the public in developing social policies concerning complex social behavior ranging from crime to intelligence.

August Weismann embraces the protozoa.

PubMed

Churchill, Frederick B

2010-01-01

This paper examines the contents and institutional context of August Weismann's long essay on Amphimixis (1891). Therein he presented detailed discussions of his on-going studies of reduction division and parthenogenesis, but more to the point, he included an elaborate examination of Émile Maupas's two major publications in protozoology. To understand the relevance of this part to the other two, the author briefly reviews highpoints in earlier nineteenth century protozoology and concludes that only in the mid-1870s and 1880s did protozoa add an important dimension to heredity theory. Otto Bütschli and then Maupas provided Weismann with a deeper understanding of how conjugation and fertilization were related but not identical processes. This allowed him to integrate the two into a fuller understanding of evolution by natural selection.

Darwin and Mendel today: a comment on "Limits of imagination: the 150th Anniversary of Mendel's Laws, and why Mendel failed to see the importance of his discovery for Darwin's theory of evolution".

PubMed

Liu, Yongsheng; Li, Xiuju

2016-01-01

We comment on a recent paper by Rama Singh, who concludes that Mendel deserved to be called the father of genetics, and Darwin would not have understood the significance of Mendel's paper had he read it. We argue that Darwin should have been regarded as the father of genetics not only because he was the first to formulate a unifying theory of heredity, variation, and development -- Pangenesis, but also because he clearly described almost all genetical phenomena of fundamental importance, including what he called "prepotency" and what we now call "dominance" or "Mendelian inheritance". The word "gene" evolved from Darwin's imagined "gemmules", instead of Mendel's so-called "factors".

Gregor Mendel's classic paper and the nature of science in genetics courses.

PubMed

Westerlund, Julie F; Fairbanks, Daniel J

2010-12-01

The discoveries of Gregor Mendel, as described by Mendel in his 1866 paper Versuche uber Pflanzen-Hybriden (Experiments on plant hybrids), can be used in undergraduate genetics and biology courses to engage students about specific nature of science characteristics and their relationship to four of his major contributions to genetics. The use of primary source literature as an instructional tool to enhance genetics students' understanding of the nature of science helps students more clearly understand how scientists work and how the science of genetics has evolved as a discipline. We offer a historical background of how the nature of science developed as a concept and show how Mendel's investigations of heredity can enrich biology and genetics courses by exemplifying the nature of science. © 2010 The Authors.

Physics in the Galtonian sciences of heredity.

PubMed

Radick, Gregory

2011-06-01

Physics matters less than we once thought to the making of Mendel. But it matters more than we tend to recognize to the making of Mendelism. This paper charts the variety of ways in which diverse kinds of physics impinged upon the Galtonian tradition which formed Mendelism's matrix. The work of three Galtonians in particular is considered: Francis Galton himself, W. F. R. Weldon and William Bateson. One aim is to suggest that tracking influence from physics can bring into focus important but now little-remembered flexibilities in the Galtonian tradition. Another is to show by example why generalizations about what happens when 'physics' meets 'biology' require caution. Even for a single research tradition in Britain in the decades around 1900, these categories were large, containing multitudes. Copyright © 2010 Elsevier Ltd. All rights reserved.

Adaptation of Organisms by Resonance of RNA Transcription with the Cellular Redox Cycle

NASA Technical Reports Server (NTRS)

Stolc, Viktor

2012-01-01

Sequence variation in organisms differs across the genome and the majority of mutations are caused by oxidation, yet its origin is not fully understood. It has also been shown that the reduction-oxidation reaction cycle is the fundamental biochemical cycle that coordinates the timing of all biochemical processes in that cell, including energy production, DNA replication, and RNA transcription. It is shown that the temporal resonance of transcriptome biosynthesis with the oscillating binary state of the reduction-oxidation reaction cycle serves as a basis for non-random sequence variation at specific genome-wide coordinates that change faster than by accumulation of chance mutations. This work demonstrates evidence for a universal, persistent and iterative feedback mechanism between the environment and heredity, whereby acquired variation between cell divisions can outweigh inherited variation.

Effects of a pre-visit educational website on information recall and needs fulfilment in breast cancer genetic counselling, a randomized controlled trial.

PubMed

Albada, Akke; van Dulmen, Sandra; Bensing, Jozien M; Ausems, Margreet G E M

2012-03-06

Pre-visit education which helps counselees to prepare for their first visit for breast cancer genetic counseling might enhance information recall and needs fulfilment. This study assessed the effects of a pre-visit website with tailored information and question prompt sheet (QPS), named E-info geneca. A total of 197 counselees were randomized to receive usual care (UC) or UC plus E-info geneca. All counselees completed a pre- and post-visit questionnaire and visits were videotaped. We studied effects on counselees' information recall, knowledge about breast cancer and heredity, fulfillment of needs, risk perception alignment, anxiety and perceived personal control, using multilevel regression analyses. Intent-to-treat analysis showed that counselees in the intervention group (n = 103) had higher levels of recall of information from the consultation (β = .32; confidence interval (CI): .04 to .60; P = .02; d = .17) and post-visit knowledge of breast cancer and heredity (β = .30; CI: .03 to .57; P = .03) than counselees in the UC group (n = 94). Also, intervention group counselees reported better fulfilment of information needs (β = .31; CI: .03 to .60; P = .03). The effects of the intervention were strongest for those counselees who did not receive an indication for DNA testing. Their recall scores showed a larger increase (β = .95; CI: .32 to 1.59; P = .003; d = .30) and their anxiety levels dropped more in the intervention compared to the UC group (β = -.60; CI: -1.12 to -.09; P = .02). No intervention effects were found after the first visit on risk perception alignment or perceived personal control. This study shows that pre-counseling education, using tailored information technology, leads to more effective first visits for breast cancer genetic counseling, in particular for counselees who received no indication for DNA testing and, therefore, had no indication for a second visit. Future study should focus on the effects of a pre-visit website on the outcomes after a complete series of visits. Dutch Trial Register ISRCTN82643064.

Stability-based sorting: The forgotten process behind (not only) biological evolution.

PubMed

Toman, Jan; Flegr, Jaroslav

2017-12-21

Natural selection is considered to be the main process that drives biological evolution. It requires selected entities to originate dependent upon one another by the means of reproduction or copying, and for the progeny to inherit the qualities of their ancestors. However, natural selection is a manifestation of a more general persistence principle, whose temporal consequences we propose to name "stability-based sorting" (SBS). Sorting based on static stability, i.e., SBS in its strict sense and usual conception, favours characters that increase the persistence of their holders and act on all material and immaterial entities. Sorted entities could originate independently from each other, are not required to propagate and need not exhibit heredity. Natural selection is a specific form of SBS-sorting based on dynamic stability. It requires some form of heredity and is based on competition for the largest difference between the speed of generating its own copies and their expiration. SBS in its strict sense and selection thus have markedly different evolutionary consequences that are stressed in this paper. In contrast to selection, which is opportunistic, SBS is able to accumulate even momentarily detrimental characters that are advantageous for the long-term persistence of sorted entities. However, it lacks the amplification effect based on the preferential propagation of holders of advantageous characters. Thus, it works slower than selection and normally is unable to create complex adaptations. From a long-term perspective, SBS is a decisive force in evolution-especially macroevolution. SBS offers a new explanation for numerous evolutionary phenomena, including broad distribution and persistence of sexuality, altruistic behaviour, horizontal gene transfer, patterns of evolutionary stasis, planetary homeostasis, increasing ecosystem resistance to disturbances, and the universal decline of disparity in the evolution of metazoan lineages. SBS acts on all levels in all biotic and abiotic systems. It could be the only truly universal evolutionary process, and an explanatory framework based on SBS could provide new insight into the evolution of complex abiotic and biotic systems. Copyright © 2017 Elsevier Ltd. All rights reserved.

[Diabetes and predictive medicine--parallax of the present time].

PubMed

Rybka, J

2010-04-01

Predictive genetics uses genetic testing to estimate the risk in asymptomatic persons. Since in the case of multifactorial diseases predictive genetic analysis deals with findings which allow wider interpretation, it has a higher predictive value in expressly qualified diseases (monogenous) with high penetration compared to multifactorial (polygenous) diseases with high participation of environmental factors. In most "civilisation" (multifactorial) diseases including diabetes, heredity and environmental factors do not play two separate, independent roles. Instead, their interactions play a principal role. The new classification of diabetes is based on the implementation of not only ethiopathogenetic, but also genetic research. Diabetes mellitus type 1 (DM1T) is a polygenous multifactorial disease with the genetic component carrying about one half of the risk, the non-genetic one the other half. The study of the autoimmune nature of DM1T in connection with genetic analysis is going to bring about new insights in DM1T prediction. The author presents new pieces of knowledge on molecular genetics concerning certain specific types of diabetes. Issues relating to heredity in diabetes mellitus type 2 (DM2T) are even more complex. The disease has a polygenous nature, and the phenotype of a patient with DM2T, in addition to environmental factors, involves at least three, perhaps even tens of different genetic variations. At present, results at the genom-wide level appear to be most promising. The current concept of prediabetes is a realistic foundation for our prediction and prevention of DM2T. A multifactorial, multimarker approach based on our understanding of new pathophysiological factors of DM2T, tries to outline a "map" of prediabetes physiology, and if these tests are combined with sophisticated methods of genetic forecasting of DM2T, this may represent a significant step in our methodology of diabetes prediction. So far however, predictive genetics is limited by the interpretation of genetic predisposition and individualisation of the level of risk. There is no doubt that interpretation calls for co-operation with clinicians, while results of genetic analyses should presently be not uncritically overestimated. Predictive medicine, however, unquestionably fulfills the preventive focus of modern medicine, and genetic analysis is a perspective diagnostic method.

Effects of a pre-visit educational website on information recall and needs fulfilment in breast cancer genetic counselling, a randomized controlled trial

PubMed Central

2012-01-01

Introduction Pre-visit education which helps counselees to prepare for their first visit for breast cancer genetic counseling might enhance information recall and needs fulfilment. This study assessed the effects of a pre-visit website with tailored information and question prompt sheet (QPS), named E-info geneca. Methods A total of 197 counselees were randomized to receive usual care (UC) or UC plus E-info geneca. All counselees completed a pre- and post-visit questionnaire and visits were videotaped. We studied effects on counselees' information recall, knowledge about breast cancer and heredity, fulfillment of needs, risk perception alignment, anxiety and perceived personal control, using multilevel regression analyses. Results Intent-to-treat analysis showed that counselees in the intervention group (n = 103) had higher levels of recall of information from the consultation (β = .32; confidence interval (CI): .04 to .60; P = .02; d = .17) and post-visit knowledge of breast cancer and heredity (β = .30; CI: .03 to .57; P = .03) than counselees in the UC group (n = 94). Also, intervention group counselees reported better fulfilment of information needs (β = .31; CI: .03 to .60; P = .03). The effects of the intervention were strongest for those counselees who did not receive an indication for DNA testing. Their recall scores showed a larger increase (β = .95; CI: .32 to 1.59; P = .003; d = .30) and their anxiety levels dropped more in the intervention compared to the UC group (β = -.60; CI: -1.12 to -.09; P = .02). No intervention effects were found after the first visit on risk perception alignment or perceived personal control. Conclusions This study shows that pre-counseling education, using tailored information technology, leads to more effective first visits for breast cancer genetic counseling, in particular for counselees who received no indication for DNA testing and, therefore, had no indication for a second visit. Future study should focus on the effects of a pre-visit website on the outcomes after a complete series of visits. Trial registration Dutch Trial Register ISRCTN82643064. PMID:22394647

Tumor necrosis factor −308 polymorphism (rs1800629) is associated with mortality and ventilator duration in 1057 Caucasian patients

PubMed Central

Watanabe, Eizo; Zehnbauer, Barbara A.; Oda, Shigeto; Sato, Yasunori; Hirasawa, Hiroyuki; Buchman, Timothy G.

2012-01-01

Purpose Management of sepsis in critically ill patients remains difficult and requires prolonged intensive care. Genetic testing has been proposed as a strategy to identify patients at risk for adverse outcome of critical illnesses. Therefore, we wished to determine the influence of heredity on predisposition to poor outcome and on duration of ventilator support of intensive care unit (ICU) patients. Methods A study was conducted from July 2001 to December 2005 in heterogeneous population of patients from 12 US ICUs represented by the Genetic Predisposition to Severe Sepsis (GenPSS) archive. In 1057 Caucasian critically ill patients with SAPS II probability of survival of >0.2 in the US, six functional single nucleotide polymorphisms in relation to inflammatory cytokines and innate immunity (rs1800629, rs16944, rs1800795, rs1800871, rs2569190, and rs909253) were evaluated in terms of mortality and ventilator free days. Results The AA homozygote of TNF(−308) (rs1800629) was most over-represented in the deceased patient group (P = 0.015 with recessive model). The carriage of the TNF(−308)* AA genotype showed significantly higher odds ratio of 2.67(1.29–5.55) (P = 0.008) after adjustment with the covariates. However, the presence of 1, 2, or 3 acute organ dysfunctions was larger prognostic factors for the adverse outcome (OR(95%CI) = 2.98(2.00–4.45), 4.01(2.07–7.77), or 19.95(4.99–79.72), P < 0.001 for all). Kaplan–Mayer plot on ventilator duration of TNF(−308)* AA patient significantly diverged from that of TNF(−308)* (GG + GA) ((AA v GG + GA), Adjusted HR(95%CI) = 2.53(1.11–5.79) with Cox regression, P = 0.028). Conclusions TNF(−308)* AA is significantly associated with susceptibility to adverse outcome and to longer ventilator duration. Therefore, heredity likely affects both predisposition to ICU prognosis as well as the resource utilization. PMID:22749237

Five years of experience in nocturnal enuresis and urinary incontinence in children: where we are and where we are going.

PubMed

Ferrara, P; Ianniello, F; Romani, L; Fabrizio, G C; Gatto, A; Chiaretti, A

2014-01-01

Nocturnal enuresis (NE) is a very common pediatric disorder. The aim of this study was to evaluate the characteristics of patients with NE or urinary incontinence (UI) during a period of 5 years to increase the knowledge on these conditions and optimize their diagnosis and treatment. We enrolled 278 children with NE or UI referred to the pediatric nephrology ambulatory, 'A. Gemelli' University Hospital of Rome, from December 2006 to December 2011. We observed that heredity, parasomnias, left-handedness, polythelia and constipation are correlated to NE and UI. We wanted to clarify the definition of NE and UI and describe our experience on the main characteristics of these conditions by referring to the latest knowledge reported in the literature. 2013 S. Karger AG, Basel.

Grand Views of Evolution.

PubMed

de Vladar, Harold P; Santos, Mauro; Szathmáry, Eörs

2017-05-01

Despite major advances in evolutionary theories, some aspects of evolution remain neglected: whether evolution: would come to a halt without abiotic change; is unbounded and open-ended; or is progressive and something beyond fitness is maximized. Here, we discuss some models of ecology and evolution and argue that ecological change, resulting in Red Queen dynamics, facilitates (but does not ensure) innovation. We distinguish three forms of open-endedness. In weak open-endedness, novel phenotypes can occur indefinitely. Strong open-endedness requires the continual appearance of evolutionary novelties and/or innovations. Ultimate open-endedness entails an indefinite increase in complexity, which requires unlimited heredity. Open-ended innovation needs exaptations that generate novel niches. This can result in new traits and new rules as the dynamics unfolds, suggesting that evolution is not fully algorithmic. Copyright © 2017 Elsevier Ltd. All rights reserved.

Determination of trace elements in the reproduction systems of some rare animals using pixe

NASA Astrophysics Data System (ADS)

Suqing, Chen; Nengming, Wang; Jianxuan, Chen; Dazhong, Zhang

In order to search for the significance of artificial feeding, reproduction and heredity, trace elements in the reproductive systems of some rare animals, including giant panda, lesser panda, marmot and river deer, have been determined. Typcial X-ray spectra of various samples are given. The elemental contents in ovary and testis of the giant panda and the lesser panda are calculated by means of yttrium as an internal standard. Elemental relative concentrations are calculated from peak areas in the spectra for thick samples. It is found that for the concentration of the elements Cr, Mn, Fe, Ni, Cu, As in the ovary there exist no significant different between the giant panda and the lesser panda. The concentration of Zn, however, shows a remakable difference. The importance of zinc in biological processes is discussed.

[Sir Francis Galton: the father of eugenics].

PubMed

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.

[Genetic approaches to Itsenko-Cushing disease].

PubMed

Kalinin, A P; Andrusenko, A B; Novikov, A V; Bogatyrev, O P; Donskov, S I; Borisova, M G; Kriukov, V F; Riazanova, L A; Manichkin, V N

1993-01-01

107 patients with Itsenko-Cushing disease were examined for heredity: family history was analyzed in 75 cases, dermatoglyphics was assessed in 44 cases, I- and II-class HLA antigens were studied in 68 cases. The patients were found to have hereditary loading both by Itsenko-Cushing and other diseases (hypertension, atherosclerosis, autoimmune disorders). Clinico-genealogical evaluation made it possible to identify forms of the disease which are inherited autosome-recessively and autosome-dominantly. However, in the majority of patients the disease onset had multifactorial nature, as there were HLA-antigen associations by DR4, DR5, DR7, DRw53, DQw3. Pilot experience with genetic study of the disease showed its genetic determination in some forms, its association with hypertension and atherosclerosis, approaches to prevention, prognosis, classification. Practical recommendations on detailed family history collection in patients with Itsenko-Cushing disease have been developed.

[The nineteenth century roots of the contemporary biological revolution].

PubMed

Swynghedauw, Bernard

2006-01-01

The recent publication of the human genomic sequence is the most important progress in biology. It originates from four major watersheds between 1860-1865, namely the biological evolution by Darwin in 1858, the Mendel laws of heredity in 1865, the basis of physiology established by Claude Bernard also in 1865, and the discoveries of microbacteria by Louis Pasteur around 1857. Before 1860, biology did not exist as a science. After 1860, the Darwin's theory progressively became a law after the discovery of the DNA polymorphism and that of the mechanisms of genetic mixing. So far the Mendel's laws were confirmed in parallel with the development of molecular genetics after the discovery of DNA structure and genetic code. The discovery of hormones is one example, amongst several on how integrative physiology applies to Claude Bernard's basis. Finally, based on Pasteur's discovery and Pasteur Institutes, microbiology became a tool for molecular biologists.

Obesity as an important risk factor for certain types of cancer.

PubMed

Davoodi, Sayed Hossain; Malek-Shahabi, Talieh; Malekshahi-Moghadam, Ali; Shahbazi, Roghieh; Esmaeili, Saeideh

2013-01-01

Cancer could be described as the uncontrolled and unrestricted growth of malignant cells in any place of the body. It is a multifactorial disease which either heredity or environmental factors (such as nutrition, physical inactivity, alcohol, obesity, exposure to sun, environmental pollutants, infections) chip in incidence of cancer. In recent years, several researchers have focused on obesity as a potent cancer risk factor. Scientificevidences have suggested that obesity has associated with increased risk for a plenty of different types of cancer. The evidences are the most consistent for endometrial cancer, breast cancer between the postmenopausal women, and renal cell cancer. More contradictoryresults have reported about the colorectal, prostate, and pancreatic cancer. Although numerous studies have done according to the obesity and cancer relation or joint, but the molecular mechanisms in which obesity could increase the risks of cancer, have been poorly understood.

Social cues and ideology.

PubMed

Mansell, Jordan

2018-01-01

Research shows that individuals with liberal and conservative ideological orientations display different value positions concerning the acceptance of social change and inequality. Research also links the expression of different values to a number of biological factors, including heredity. In light of these biological influences, I investigate whether differences in social values associated with liberal and conservative ideologies reflect alternative strategies to maximize returns from social interactions. Using an American sample of Democrats and Republicans, I test whether information about shared and unshared social values in the form of implicit social attitudes have a disproportionate effect on the willingness of Democrats and Republicans to trust an anonymous social partner. I find evidence that knowledge of shared values significantly increases levels of trust among Democrats but not Republicans. I further find that knowledge of unshared values significantly decreases trust among Republicans but not Democrats. These findings are consistent with studies indicating that differences in ideological orientation are linked to differences in cognition and decision-making.

THE EFFECT OF IONIZING RADIATIONS ON ONTOGENESIS IN BIRDS

DOE Office of Scientific and Technical Information (OSTI.GOV)

Dinu, M.

1963-01-01

The effect of strong doses of ionizing radiations on the ontogenetic development of birds and formation of mutations was studied. The data obtained show that ionizing radiations have a different effect on the biological substratum, depending on their nature and relationship to physiological limits. Gamma radiations have a negative action on the biochemical process altering ths substratum and upsetting the entity of heredity. It was found that x rays produce a temporary stimulating effect on metabolic processes influencing the vitality, ontogenetic development, resistance, the appearance of sexual instinct, and the fertility. Ionizing radiations affect functioning of endocrinic glands and consequentlymore » the ratio of sexes in the offspring. From the results obtained it cand be stated that strong doses of ionizing radiations may be used to obtain variation of mutations, and that in general they are a factor in the evolution of the living organism. (OTS)« less

Robert Heath Lock and His Textbook of Genetics, 1906

PubMed Central

Edwards, A. W. F.

2013-01-01

Robert Heath Lock (1879–1915), a Cambridge botanist associated with William Bateson and R. C. Punnett, published his book Recent Progress in the Study of Variation, Heredity, and Evolution in 1906. This was a remarkable textbook of genetics for one appearing so early in the Mendelian era. It covered not only Mendelism but evolution, natural selection, biometry, mutation, and cytology. It ran to five editions but was, despite its success, largely forgotten following Lock’s early death in 1915. Nevertheless it was the book that inspired H. J. Muller to do genetics and was remembered by A. H. Sturtevant as the source of the earliest suggestion that linkage might be related to the exchange of parts between homologous chromosomes. Here we also put forward evidence that it had a major influence on the statistician and geneticist R. A. Fisher at the time he was a mathematics student at Cambridge. PMID:23824968

Exploring the post-genomic world: differing explanatory and manipulatory functions of post-genomic sciences

PubMed Central

Holmes, Christina; Carlson, Siobhan M.; McDonald, Fiona; Jones, Mavis; Graham, Janice

2016-01-01

Richard Lewontin proposed that the ability of a scientific field to create a narrative for public understanding garners it social relevance. This article applies Lewontin's conceptual framework of the functions of science (manipulatory and explanatory) to compare and explain the current differences in perceived societal relevance of genetics/genomics and proteomics. We provide three examples to illustrate the social relevance and strong cultural narrative of genetics/genomics for which no counterpart exists for proteomics. We argue that the major difference between genetics/genomics and proteomics is that genomics has a strong explanatory function, due to the strong cultural narrative of heredity. Based on qualitative interviews and observations of proteomics conferences, we suggest that the nature of proteins, lack of public understanding, and theoretical complexity exacerbates this difference for proteomics. Lewontin's framework suggests that social scientists may find that omics sciences affect social relations in different ways than past analyses of genetics. PMID:27134568

Eugenics visualized: the exhibit of the Third International Congress of Eugenics, 1932.

PubMed

Stillwell, Devon

2012-01-01

This article investigates the exhibit of the Third International Congress of Eugenics, which was organized by Harry Hamilton Laughlin and showcased at the American Museum of Natural History in 1932. It argues that the exhibit's displays shaped popular eugenic ideology by connecting particular eugenic principles to specific visual representations that were experienced in relation to binaries such as the artistically traditional and the modern, the classical and the grotesque, and the scientific and the spectacle (or the "freak" and the medical specimen). These dichotomies were, in turn, experienced within the context of the exhibit's overall theme of eugenics as anchored in the past and the future and concern over the differential birthrate. The exhibit to the Third Congress provides insight into growing tensions within the eugenics movement of the 1930s, the importance of positive eugenics, the aesthetics of heredity, and how the "scientific truths" of a given era are publicized and perpetuated.

Periorbital Hyperpigmentation: A Comprehensive Review

PubMed Central

Sarkar, Rashmi; Ranjan, Rashmi; Garg, Shilpa; Garg, Vijay K.; Sonthalia, Sidharth; Bansal, Shivani

2016-01-01

Periorbital hyperpigmentation is a commonly encountered condition. There is very little scientific data available on the clinical profile and pathogenesis of periorbital hyperpigmentation. Periorbital hyperpigmentation is caused by various exogenous and endogenous factors. The causative factors include genetic or heredity, excessive pigmentation, postinflammatory hyperpigmentation secondary to atopic and allergic contact dermatitis, periorbital edema, excessive vascularity, shadowing due to skin laxity and tear trough associated with aging. There are a number of treatment options available for periorbital hyperpigmentation. Among the available alternatives to treat dark circles are topical depigmenting agents, such as hydroquinone, kojic acid, azelaic acid, and topical retinoic acid, and physical therapies, such as chemical peels, surgical corrections, and laser therapy, most of which are tried scientifically for melasma, another common condition of hyperpigmentation that occurs on the face. The aim of treatment should be to identify and treat the primary cause of hyperpigmentation as well as its contributing factors. PMID:26962392

Induction of Oxidation in Living Cells by Time-Varying Electromagnetic Fields

NASA Technical Reports Server (NTRS)

Stolc, Viktor

2015-01-01

We are studying how biological systems can harness quantum effects of time varying electromagnetic (EM) waves as the time-setting basis for universal biochemical organization via the redox cycle. The effects of extremely weak EM field on the biochemical redox cycle can be monitored through real-time detection of oxidation-induced light emissions of reporter molecules in living cells. It has been shown that EM fields can also induce changes in fluid transport rates through capillaries (approximately 300 microns inner diameter) by generating annular proton gradients. This effect may be relevant to understanding cardiovascular dis-function in spaceflight, beyond the ionosphere. Importantly, we show that these EM effects can be attenuated using an active EM field cancellation device. Central for NASA's Human Research Program is the fact that the absence of ambient EM field in spaceflight can also have a detrimental influence, namely via increased oxidative damage, on DNA replication, which controls heredity.

[Classification of organisms and structuralism in biology].

PubMed

Vasil'eva, L I

2001-01-01

Structuralism in biology is the oldest trend oriented to the search for natural "laws of forms" comparable with laws of growth of crystal, was revived at the end of 20th century on the basis of structuralist thought in socio-humanitarian sciences. The development of principal ideas of the linguistic structuralism in some aspects is similar to that of biological systematics, especially concerning the relationships between "system" and "evolution". However, apart from this general similarity, biological structuralism is strongly focused on familiar problems of the origin of diversity in nature. In their striving for the renovation of existing views, biological structuralists oppose the neo-darwinism emphasizing the existence of "law of forms", that are independent on heredity and genetic "determinism". The trend to develop so-called "rational taxonomy" is also characteristic of biological structuralism but this attempt failed being connected neither with Darwin's historicism nor with Plato's typology.

Family environment, not heredity, accounts for family resemblances in food preferences and attitudes: a twin study.

PubMed

Rozin, P; Millman, L

1987-04-01

Monozygotic and same-sex dizygotic twin pairs reported on their food preferences, the variety of foods of the same general category (e.g. types of soup) in their diet, and their concern about contact of their food with disgusting or other unacceptable substances (contamination sensitivity). Although there was substantial resemblance between siblings for many of these items, there was no clear evidence for a heritable component on any item. The only case for which there was an interpretable and significantly greater resemblance among monozygotic than among dizygotic twins (out of 23 questions) was preferred degree of hotness resulting from chili pepper in foods. These results confirm the prediction that in omnivorous animals, such as humans, genetic predispositions will be minimal with respect to food. The modest sibling resemblances on a number of measures are primarily attributable to a shared environment.

Genetics and Genomics of Single-Gene Cardiovascular Diseases: Common Hereditary Cardiomyopathies as Prototypes of Single-Gene Disorders

PubMed Central

Marian, Ali J.; van Rooij, Eva; Roberts, Robert

2016-01-01

This is the first of 2 review papers on genetics and genomics appearing as part of the series on “omics.” Genomics pertains to all components of an organism’s genes, whereas genetics involves analysis of a specific gene(s) in the context of heredity. The paper provides introductory comments, describes the basis of human genetic diversity, and addresses the phenotypic consequences of genetic variants. Rare variants with large effect sizes are responsible for single-gene disorders, whereas complex polygenic diseases are typically due to multiple genetic variants, each exerting a modest effect size. To illustrate the clinical implications of genetic variants with large effect sizes, 3 common forms of hereditary cardiomyopathies are discussed as prototypic examples of single-gene disorders, including their genetics, clinical manifestations, pathogenesis, and treatment. The genetic basis of complex traits is discussed in a separate paper. PMID:28007145

Environmental Adaptation from the Origin of Life to the Last Universal Common Ancestor

NASA Astrophysics Data System (ADS)

Cantine, Marjorie D.; Fournier, Gregory P.

2018-03-01

Extensive fundamental molecular and biological evolution took place between the prebiotic origins of life and the state of the Last Universal Common Ancestor (LUCA). Considering the evolutionary innovations between these two endpoints from the perspective of environmental adaptation, we explore the hypothesis that LUCA was temporally, spatially, and environmentally distinct from life's earliest origins in an RNA world. Using this lens, we interpret several molecular biological features as indicating an environmental transition between a cold, radiation-shielded origin of life and a mesophilic, surface-dwelling LUCA. Cellularity provides motility and permits Darwinian evolution by connecting genetic material and its products, and thus establishing heredity and lineage. Considering the importance of compartmentalization and motility, we propose that the early emergence of cellularity is required for environmental dispersal and diversification during these transitions. Early diversification and the emergence of ecology before LUCA could be an important pre-adaptation for life's persistence on a changing planet.

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

PubMed

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.

[Analysis on genetic polymorphism of 5 STR loci selected from X chromosome].

PubMed

Liu, Qi-ji; Gong, Yao-qin; Zhang, Xi-yu; Gao, Gui-min; Li, Jiang-xia; Guo, Yi-shou

2005-02-01

To select short tandem repeats(STR) from X chromosome. STR is a universal genetic marker that has changeable polymorphism and stable heredity in human genome. It is a specific DNA segment composed of 2-6 base pairs as its core sequence. It is an ideal DNA marker used in linkage analysis and gene mapping. In this study, 8 short tandem repeats were selected from two genomic clones on X chromosome by using BCM Search Launcher. Primers amplifying the STR loci were designed by using Primer 3.0 according to the unique sequence flanking the STRs. Polymorphisms of the short tandem repeats in Chinese population were evaluated by PCR amplification and PAGE. Five of these STRs were polymorphic. Chi-square test indicated that the distribution of genotypes agreed with Hardy-Weinberg equilibrium (P>0.05). Five polymorphic short tandem repeats have been identified on chromosome X and will be useful for linkage analysis and gene mapping.

Implications of memory modulation for post-traumatic stress and fear disorders

PubMed Central

Parsons, Ryan G; Ressler, Kerry J

2013-01-01

Post-traumatic stress disorder, panic disorder and phobia manifest in ways that are consistent with an uncontrollable state of fear. Their development involves heredity, previous sensitizing experiences, association of aversive events with previous neutral stimuli, and inability to inhibit or extinguish fear after it is chronic and disabling. We highlight recent progress in fear learning and memory, differential susceptibility to disorders of fear, and how these findings are being applied to the understanding, treatment and possible prevention of fear disorders. Promising advances are being translated from basic science to the clinic, including approaches to distinguish risk versus resilience before trauma exposure, methods to interfere with fear development during memory consolidation after a trauma, and techniques to inhibit fear reconsolidation and to enhance extinction of chronic fear. It is hoped that this new knowledge will translate to more successful, neuroscientifically informed and rationally designed approaches to disorders of fear regulation. PMID:23354388

A review of environmental contributions to childhood motor skills

PubMed Central

Golding, Jean; Emmett, Pauline; Iles-Caven, Yasmin; Steer, Colin; Lingam, Raghu

2013-01-01

Although much of children’s motor skills have a heredity component, at least half of the variance is likely to be influenced by the environment It is important to ascertain features of the environment that are responsible so that toxins can be avoided, children at risk can be identified and beneficial interventions initiated. This review outlines the results of published studies and recommends the areas where further research is required. We found much confusion with little comparability concerning the ages or measures used. Few studies had sufficient power and few allowed for confounders. We found that research to date implicates associations with prenatal drinking ≥4 drinks of alcohol per day; diabetes; taking antidepressant drugs; being deficient in iodine or iron; dietary fish; and postnatal depression. The child appearing to be most at risk was born of low birth weight (but not due to preterm delivery); or with neonatal problems. PMID:24170258

Robert Heath Lock and his textbook of genetics, 1906.

PubMed

Edwards, A W F

2013-07-01

Robert Heath Lock (1879-1915), a Cambridge botanist associated with William Bateson and R. C. Punnett, published his book Recent Progress in the Study of Variation, Heredity, and Evolution in 1906. This was a remarkable textbook of genetics for one appearing so early in the Mendelian era. It covered not only Mendelism but evolution, natural selection, biometry, mutation, and cytology. It ran to five editions but was, despite its success, largely forgotten following Lock's early death in 1915. Nevertheless it was the book that inspired H. J. Muller to do genetics and was remembered by A. H. Sturtevant as the source of the earliest suggestion that linkage might be related to the exchange of parts between homologous chromosomes. Here we also put forward evidence that it had a major influence on the statistician and geneticist R. A. Fisher at the time he was a mathematics student at Cambridge.

Maxillary distraction osteogenesis for treatment of cleft lip and palate in a patient with X-linked agammaglobulinemia.

PubMed

Sato, Yutaka; Mishimagi, Takashi; Katsuki, Yuko; Harada, Kiyoshi

2014-07-01

X-linked agammaglobulinemia (XLA) is a congenital immune deficiency disorder caused by abnormal antibody production. It is a rare disease with an estimated frequency of 1 in 379,000 that has X-linked recessive heredity and develops only in males. The clinical problems include bacterial infection such as otitis media, sinusitis, and bronchitis. In recent years it has become possible to diagnose XLA in the early stage and intravenous immunoglobulin replacement therapy has permitted survival to adulthood. However, there have been no reports of oral surgery in patients with XLA. Here, we describe a case in which immunoglobulin replacement therapy given pre- and postoperatively was used to control infection in oral surgery and maxillary distraction osteogenesis performed for improving occlusion and appearance of a cleft lip and palate in a patient with XLA. Copyright © 2014 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

Exploring the post-genomic world: differing explanatory and manipulatory functions of post-genomic sciences.

PubMed

Holmes, Christina; Carlson, Siobhan M; McDonald, Fiona; Jones, Mavis; Graham, Janice

2016-01-02

Richard Lewontin proposed that the ability of a scientific field to create a narrative for public understanding garners it social relevance. This article applies Lewontin's conceptual framework of the functions of science (manipulatory and explanatory) to compare and explain the current differences in perceived societal relevance of genetics/genomics and proteomics. We provide three examples to illustrate the social relevance and strong cultural narrative of genetics/genomics for which no counterpart exists for proteomics. We argue that the major difference between genetics/genomics and proteomics is that genomics has a strong explanatory function, due to the strong cultural narrative of heredity. Based on qualitative interviews and observations of proteomics conferences, we suggest that the nature of proteins, lack of public understanding, and theoretical complexity exacerbates this difference for proteomics. Lewontin's framework suggests that social scientists may find that omics sciences affect social relations in different ways than past analyses of genetics.

DNA methylation-based age prediction from various tissues and body fluids

PubMed Central

Jung, Sang-Eun; Shin, Kyoung-Jin; Lee, Hwan Young

2017-01-01

Aging is a natural and gradual process in human life. It is influenced by heredity, environment, lifestyle, and disease. DNA methylation varies with age, and the ability to predict the age of donor using DNA from evidence materials at a crime scene is of considerable value in forensic investigations. Recently, many studies have reported age prediction models based on DNA methylation from various tissues and body fluids. Those models seem to be very promising because of their high prediction accuracies. In this review, the changes of age-associated DNA methylation and the age prediction models for various tissues and body fluids were examined, and then the applicability of the DNA methylation-based age prediction method to the forensic investigations was discussed. This will improve the understandings about DNA methylation markers and their potential to be used as biomarkers in the forensic field, as well as the clinical field. PMID:28946940

Does the central dogma still stand?

PubMed

Koonin, Eugene V

2012-08-23

Prions are agents of analog, protein conformation-based inheritance that can confer beneficial phenotypes to cells, especially under stress. Combined with genetic variation, prion-mediated inheritance can be channeled into prion-independent genomic inheritance. Latest screening shows that prions are common, at least in fungi. Thus, there is non-negligible flow of information from proteins to the genome in modern cells, in a direct violation of the Central Dogma of molecular biology. The prion-mediated heredity that violates the Central Dogma appears to be a specific, most radical manifestation of the widespread assimilation of protein (epigenetic) variation into genetic variation. The epigenetic variation precedes and facilitates genetic adaptation through a general 'look-ahead effect' of phenotypic mutations. This direction of the information flow is likely to be one of the important routes of environment-genome interaction and could substantially contribute to the evolution of complex adaptive traits.

"You must not rely upon the words that very kind and beautiful girls utter, because in that regard, no offence, they all - lie":venereal diseases as a motive of Fran Gundrum's (1856-1919) work on sexual hygiene.

PubMed

Kuhar, Martin; Fatović-Ferenčić, Stella

2013-01-01

Until the works of Fran Gundrum, there was no comprehensive analysis of sexuality in Croatia. In this article, we investigate the background of Gundrum's book Sexual Health Care, the first book on sexual hygiene in Croatia. We analyzed the motivational effect venereal diseases had on writing the book, as well as the metaphoric language he used to conceptualize them. Venereal diseases are presented in his work as a consequence of irresponsible sexual behavior, and are interpreted using the analogy of natural state of English political philosopher Thomas Hobbes. All aspects of his suggestions for suppression of venereal diseases were colored by giving priority to social over individual well-being. Tradition and modernity intermix in his work, shaping him as the pioneer of sexual hygiene on our territory in the times when questions about heredity and survival of the nation started to forcefully shape public health policies.

Grandmothers as gems of genetic wisdom: exploring South African traditional beliefs about the causes of childhood genetic disorders.

PubMed

Penn, Claire; Watermeyer, Jennifer; MacDonald, Carol; Moabelo, Colleen

2010-02-01

With its diverse cultural and linguistic profile, South Africa provides a unique context to explore contextual influences on the process of genetic counseling. Prior research suggests intergenerational differences regarding models of causation which influence treatment-seeking paths. This pilot study therefore aimed to explore South African traditional beliefs regarding common childhood genetic disorders. Three focus groups were conducted with fifteen grandmothers from different cultural backgrounds in an urban community. Questions pertained to the role of the grandmother, traditional beliefs regarding causes of genetic disorders, explanations of heredity, and prevention and management of genetic disorders. Results indicate a variety of cultural explanations for causes of childhood genetic disorders. These causes can be classified into categories related to lifestyle, behavior, social issues, culture, religion, genetic, and familial causes. Prevention and treatment issues are also highlighted. These findings have implications for genetic counseling practice, which needs to include a greater focus on cultural issues.

The Growth of Developmental Thought: Implications for a New Evolutionary Psychology

PubMed Central

Lickliter, Robert

2009-01-01

Evolution has come to be increasingly discussed in terms of changes in developmental processes rather than simply in terms of changes in gene frequencies. This shift is based in large part on the recognition that since all phenotypic traits arise during ontogeny as products of individual development, a primary basis for evolutionary change must be variations in the patterns and processes of development. Further, the products of development are epigenetic, not just genetic, and this is the case even when considering the evolutionary process. These insights have led investigators to reconsider the established notion of genes as the primary cause of development, opening the door to research programs focused on identifying how genetic and non-genetic factors coact to guide and constrain the process of development and its outcomes. I explore this growth of developmental thought and its implications for the achievement of a unified theory of heredity, development, and evolution and consider its implications for the realization of a new, developmentally-based evolutionary psychology. PMID:19956346

'Arthritis' in Byzantium (AD 324-1453): unknown information from non-medical literary sources.

PubMed

Lascaratos, J

1995-12-01

OBJECTIVE--To compile and analyse information contained in non-medical texts of the Byzantine historians and chroniclers concerning arthritis, and to clarify the first use of Colchicum autumnale in the treatment of gout by the fifth century physician, Jacob Psychristus. CONCLUSIONS--This material gives an indication of the problem of arthritis and, in particular, a disease resembling gout that tyrannised a great number of the population in the Byzantine Empire (AD 324-1453). Contemporary historians and chroniclers maintain that the main causes of gout ('podagra') were the over-consumption of alcoholic drinks and food. Most relevant texts include anxiety and heredity among the aetiological factors of the disease. The incidence of this group of diseases among the Byzantine Emperors (it is certain that 14 of a total of 86 had a form of arthritis) and other officials of the State indicates that these diseases were a possible factor in certain political and military difficulties of the Empire.

'Arthritis' in Byzantium (AD 324-1453): unknown information from non-medical literary sources.

PubMed Central

Lascaratos, J

1995-01-01

OBJECTIVE--To compile and analyse information contained in non-medical texts of the Byzantine historians and chroniclers concerning arthritis, and to clarify the first use of Colchicum autumnale in the treatment of gout by the fifth century physician, Jacob Psychristus. CONCLUSIONS--This material gives an indication of the problem of arthritis and, in particular, a disease resembling gout that tyrannised a great number of the population in the Byzantine Empire (AD 324-1453). Contemporary historians and chroniclers maintain that the main causes of gout ('podagra') were the over-consumption of alcoholic drinks and food. Most relevant texts include anxiety and heredity among the aetiological factors of the disease. The incidence of this group of diseases among the Byzantine Emperors (it is certain that 14 of a total of 86 had a form of arthritis) and other officials of the State indicates that these diseases were a possible factor in certain political and military difficulties of the Empire. Images PMID:8546526

Helping Couples Fulfill the "Highest of Life's Goals": Mate Selection, Marriage Counselling, and Genetic Counseling in United States.

PubMed

Stillwell, Devon

2016-02-01

This article traces the history of modern genetic counseling to mate selection and marriage counselling practices of the early-20th century. Mate selection revolved around a belief that human heredity could be improved and genetic diseases eradicated through better breeding. Marriage counselling, though interested in reproduction, was also concerned with the emotional and psychological well-being of couples. These two practices coalesced most obviously in the work of well-known geneticist Sheldon Reed. Even as marriage and genetic counselling diverged in the post-WWII period, vestiges of these practices remain in contemporary counseling experiences with family planning and genetic screening programs. Emphasizing points of continuity between "positive" eugenic ideologies and modern genetic practices elaborates the diverse origins of genetic counseling. It also exposes how genetic counselors have become involved in genetic enterprises beyond standard clinical settings, and prods at key issues in the interaction between genetic science and social values.

Obesity Differentially Affects Phenotypes of Polycystic Ovary Syndrome

PubMed Central

Moran, Carlos; Arriaga, Monica; Rodriguez, Gustavo; Moran, Segundo

2012-01-01

Obesity or overweight affect most of patients with polycystic ovary syndrome (PCOS). Phenotypes are the clinical characteristics produced by the interaction of heredity and environment in a disease or syndrome. Phenotypes of PCOS have been described on the presence of clinical hyperandrogenism, oligoovulation and polycystic ovaries. The insulin resistance is present in the majority of patients with obesity and/or PCOS and it is more frequent and of greater magnitude in obese than in non obese PCOS patients. Levels of sexual hormone binding globulin are decreased, and levels of free androgens are increased in obese PCOS patients. Weight loss treatment is important for overweight or obese PCOS patients, but not necessary for normal weight PCOS patients, who only need to avoid increasing their body weight. Obesity decreases or delays several infertility treatments. The differences in the hormonal and metabolic profile, as well as the different focus and response to treatment between obese and non obese PCOS patients suggest that obesity has to be considered as a characteristic for classification of PCOS phenotypes. PMID:22829818

DOE Office of Scientific and Technical Information (OSTI.GOV)

Breo, D.L.

The best-selling The Double Helix, published 20 years ago, describes the events that had led to the discovery by James Watson and Francis Crick in 1953 of the structure of deoxyribonucleic acid (DNA), the building block of genes and heredity. At the time, the 25-year-old Watson was widely perceived as arrogant, brash, gawky, and intense. Subsequent events did little to change that impression. Today, at age 61, James Dewey Watson is still an angry young man. As director since 1968 of the Cold Spring Harbor Laboratory on Long Island, NY, and as director since 1988 of the National Center formore » Human Genome Research at the National Institutes of Health (NIH), he is coordinating the attempt to decipher biology's deepest secrets: the mapping, sequencing, and defining of the estimated 50,000 to 100,000 human genes arranged over the 23 pairs of chromosomes. The results, expected by early next century, may reveal the chemical script of life and help solve the riddles of inherited genetic diseases and certain cancers.« less

[The world of double helix--"it did not escape our notice"].

PubMed

Gabryelska, Marta M; Barciszewski, Jan

2013-01-01

One of the key questions of biology is the nature and mechanisms of gene function. It has been 60 years since proposing the right-handed model of DNA double helix in 1953. This discovery was honored with Nobel Prize in 1962 and become a breakthrough in knowing and understanding mechanisms of heredity and genetic code. Since that time a great deal of data have been gathered considering functions, structure and DNA application. It became the basis of modern molecular biology, chemical biology and biotechnology. Today we know, that double helix is characterized by its dynamics and plasticity, which depend on its nucleotide sequence. Chromatin structure and DNA mediated charge transport have a crucial role in understanding mechanisms of its damage and repair. Progress in epigenetics allowed to identify new DNA bases, such as 5-methylcytosine, 5-hydroxymethylcytosine, 5-formylcytosine and 5-carboxycytosine. Design of new catalytic nucleic acids and the nanotechnology field of DNA origami reveal its application potential.

Influence of cadmium on physiological parameters and efficiency of chickens-broilers

NASA Astrophysics Data System (ADS)

Lisunova, L. I.; Tokarev, V. S.; Lisunova, A. V.

2003-05-01

In modern conditions a basis of activity of the person becomes the principle of ecological rationality including development and practical use of systems, technologies and the ways providing reception of ecologically safe production of animal industries. Heavy metals concern to number of the most dangerous objects of an environment The sizes of their distribution and intensity of migration in an environment have got dangerous character for normal functioning and health of people. In this connection there is a real necessity of development of strategy of regulation of a level of heavy metals for system about “ground - an atmosphere - water - a plant - an animal - the person”, basing on the interconnected and mutually conditioned processes of their circulation. Cadmium concerns to group of heavy metals. Its increased contents in an organism of the person reduces ability to resist to illnesses. It has mutagen and cancerogenic properties, negatively influences on a heredity. It also promotes development of diseases of kidneys, and also a gastritis and an anemia.

Strengthening human genetics research in Africa: report of the 9th meeting of the African Society of Human Genetics in Dakar in May 2016.

PubMed

Ndiaye Diallo, R; Gadji, M; Hennig, B J; Guèye, M V; Gaye, A; Diop, J P D; Sylla Niang, M; Lopez Sall, P; Guèye, P M; Dem, A; Faye, O; Dieye, A; Cisse, A; Sembene, M; Ka, S; Diop, N; Williams, S M; Matovu, E; Ramesar, R S; Wonkam, A; Newport, M; Rotimi, C; Ramsay, M

2017-01-01

The 9th meeting of the African Society of Human Genetics, in partnership with the Senegalese Cancer Research and Study Group and the Human Heredity and Health in Africa (H3Africa) Consortium, was held in Dakar, Senegal. The theme was Strengthening Human Genetics Research in Africa. The 210 delegates came from 21 African countries and from France, Switzerland, UK, UAE, Canada and the USA. The goal was to highlight genetic and genomic science across the African continent with the ultimate goal of improving the health of Africans and those across the globe, and to promote the careers of young African scientists in the field. A session on the sustainability of genomic research in Africa brought to light innovative and practical approaches to supporting research in resource-limited settings and the importance of promoting genetics in academic, research funding, governmental and private sectors. This meeting led to the formation of the Senegalese Society for Human Genetics.

[Methods of the multivariate statistical analysis of so-called polyetiological diseases using the example of coronary heart disease].

PubMed

Lifshits, A M

1979-01-01

General characteristics of the multivariate statistical analysis (MSA) is given. Methodical premises and criteria for the selection of an adequate MSA method applicable to pathoanatomic investigations of the epidemiology of multicausal diseases are presented. The experience of using MSA with computors and standard computing programs in studies of coronary arteries aterosclerosis on the materials of 2060 autopsies is described. The combined use of 4 MSA methods: sequential, correlational, regressional, and discriminant permitted to quantitate the contribution of each of the 8 examined risk factors in the development of aterosclerosis. The most important factors were found to be the age, arterial hypertension, and heredity. Occupational hypodynamia and increased fatness were more important in men, whereas diabetes melitus--in women. The registration of this combination of risk factors by MSA methods provides for more reliable prognosis of the likelihood of coronary heart disease with a fatal outcome than prognosis of the degree of coronary aterosclerosis.

Legalised non-consensual sterilisation - eugenics put into practice before 1945, and the aftermath. Part 1: USA, Japan, Canada and Mexico.

PubMed

Amy, Jean-Jacques; Rowlands, Sam

2018-04-01

In the late 19th century, eugenics, a pseudo-scientific doctrine based on an erroneous interpretation of the laws of heredity, swept across the industrialised world. Academics and other influential figures who promoted it convinced political stakeholders to enact laws authorising the sterilisation of people seen as 'social misfits'. The earliest sterilisation Act was enforced in Indiana, in 1907; most states in the USA followed suit and so did several countries, with dissimilar political regimes. The end of the Second World War saw the suspension of Nazi legislation in Germany, including that regulating coerced sterilisation. The year 1945 should have been the endpoint of these inhuman practices but, in the early post-war period, the existing sterilisation Acts were suspended solely in Germany and Austria. Only much later did certain countries concerned - not Japan so far - officially acknowledge the human rights violations committed, issue apologies and develop reparation schemes for the victims' benefit.

Osteoarthritis. A continuing challenge.

PubMed Central

Sack, K E

1995-01-01

Osteoarthritis is a disorder of cartilage that affects almost 85% of the population by age 75. A lack of rigorous clinical and radiographic criteria for defining the disorder makes precise determination of its prevalence impossible. The process of wear and tear explains many manifestations of osteoarthritis, but it does not account for some of the clinical findings or the biochemical changes in osteoarthritic cartilage. Thus, other factors such as heredity, hormones, and diet may play a role. Treatment consists of teaching patients about their disease, alleviating pain, and preserving joint function. Nonsteroidal anti-inflammatory drugs may be no more effective than simple analgesics in relieving the pain of this disorder. Moreover, some nonsteroidal anti-inflammatory drugs can adversely affect cartilage metabolism, and most are possibly dangerous in elderly patients. Drugs that inhibit the production or activity of chondrolytic enzymes can slow the degeneration of cartilage in some animals, but their effects on humans with osteoarthritis are unproved. The surgical repair of severely damaged joints can have gratifying results. Images Figure 2. PMID:8553653

Pathophysiology of AAA: heredity vs environment.

PubMed

Björck, Martin; Wanhainen, Anders

2013-01-01

Abdominal aortic aneurysm (AAA) has a complex pathophysiology, in which both environmental and genetic factors play important roles, the most important being smoking. The recently reported falling prevalence rates of AAA in northern Europe and Australia/New Zeeland are largely explained by healthier smoking habits. Dietary factors and obesity, in particular abdominal obesity, are also of importance. A family history of AAA among first-degree relatives is present in approximately 13% of incident cases. The probability that a monozygotic twin of a person with an AAA has the disease is 24%, 71 times higher than that for a monozygotic twin of a person without AAA. Approximately 1000 SNPs in 100 candidate genes have been studied, and three genome-wide association studies were published, identifying different diverse weak associations. An example of interaction between environmental and genetic factors is the effect of cholesterol, where genetic and dietary factors affect levels of both HDL and LDL. True epigenetic studies have not yet been published. Copyright © 2013 Elsevier Inc. All rights reserved.

Wilhelm Weinberg’s Early Contribution to Segregation Analysis

PubMed Central

Stark, Alan; Seneta, Eugene

2013-01-01

Wilhelm Weinberg (1862–1937) is a largely forgotten pioneer of human and medical genetics. His name is linked with that of the English mathematician G. H. Hardy in the Hardy–Weinberg law, pervasive in textbooks on population genetics since it expresses stability over generations of zygote frequencies AA, Aa, aa under random mating. One of Weinberg’s signal contributions, in an article whose centenary we celebrate, was to verify that Mendel’s segregation law still held in the setting of human heredity, contrary to the then-prevailing view of William Bateson (1861–1926), the leading Mendelian geneticist of the time. Specifically, Weinberg verified that the proportion of recessive offspring genotypes aa in human parental crossings Aa × Aa (that is, the segregation ratio for such a setting) was indeed p=14. We focus in a nontechnical way on his procedure, called the simple sib method, and on the heated controversy with Felix Bernstein (1878–1956) in the 1920s and 1930s over work stimulated by Weinberg’s article. PMID:24018765

Ethical, Legal and Social Issues Surrounding Research on Genetic Contributions to Anti-Social Behavior

PubMed Central

Berryessa, Colleen M.; Martinez-Martin, Nicole A.; Allyse, Megan A.

2013-01-01

Scientific study of genetic contributions to chronic antisocial behavior has stemmed from many lines of research in recent years. Genetic research involving twin, family, and adoption studies have traditionally been used to compare the health and behavior outcomes of individuals who share the same environment or hereditary lineage; several of these studies have concluded that heredity plays some role in the formation of chronic antisocial behavior, including various forms of aggression and chronic norm-defiance. However, the ethical, social, and legal environment surrounding research on the biological contributions to antisocial behavior in the United States is contentious. Although there has been some discussion in the last few decades regarding the ethical, social, and legal concerns around this type of research within academic and policy circles, analysis and discussion of these concerns rarely appear together. This paper explores the main themes that interact to form the basis of much of the resistance to positing biological contributions to antisocial behavior. PMID:24319343

Mutations in Soviet public health science: post-Lysenko medical genetics, 1969-1991.

PubMed

Bauer, Susanne

2014-09-01

This paper traces the integration of human genetics with Soviet public health science after the Lysenko era. For nearly three decades, USSR biology pursued its own version of anti-bourgeois, Soviet 'creative Darwinism', departing from western, post-WWII scientific developments. After Lysenko was suspended, research niches of immunology, biophysics and mutation research formed the basis of new departments at the Institute of Medical Genetics, which was founded in 1969 as part of the Soviet Academy of Medical Sciences. Focussing on early research activities and collaborations at the institute, I show how the concept of mutagenesis, a pivotal issue during the Cold War, became mobilized from Drosophila genetics to human heredity and to society as a whole. This mode of scaling up and down through population studies shaped not only Soviet human biology and genetics; it also brought about changes in clinical practice and public health as well as in the monitoring and regulation of mutagenic agents in the environment. Copyright © 2014 Elsevier Ltd. All rights reserved.

Times of danger: embryos, sperm and precarious reproduction ca. 1870s-1910s.

PubMed

Kampf, Antje

2015-03-01

This paper discusses the rise and fall of the theory of paternal transmission, drawing attention to the hitherto underresearched debates about the importance and impact of male-mediated harm to the embryo in reproduction that peaked around the turn of the twentieth century. The focus is on the implications of the twin "great social evils," syphilis and alcohol, which converged at the time of a general transformation of medicine into experimental science and a concomitant rise in new concepts of heredity. Looking at the way in which the issue of time added to profound changes which were linked to particular visions of society and changes in the politics of gender at the turn of the century, I examine the asymmetrical relationship of sociopolitical and epistemological dimensions of time and reproduction. The paper shows how these debates were positioned within the wider context of eugenics and in relation to concepts of male reproduction that involved fundamental political, social and moral dimensions.

Vienna - Chicago

PubMed Central

Luan, Xianghong; Diekwisch, Thomas G.H.

2009-01-01

The discussion over the roles of genes and environment on the phenotypical specification of organisms has held a central role in science philosophy since the late 19th century and has re-emerged in today’s debate over genetic determinism and developmental plasticity. In fin-de-siecle Vienna, this debate coincided with a philosophical debate over empiricism/materialism versus idealism/vitalism. Turn-of-the-century Vienna’s highly interdisciplinary environment was also the birthplace for the model system of the unopposed molar. The un-opposed molar system features new tissue formation at the roots of teeth and tooth drift once opposing teeth are lost. The un-opposed molar model system was revived by a group of Viennese scientists that left Vienna during the Nazi period to address Vienna’s questions about evolution and heredity and about genes and environment in Chicago’s post-WWII scientific exile community. Here we are using the colorful history of the un-opposed molar to investigate the role of culture and method in the scientific evolution of a model system. PMID:17621674

Race in an epigenetic time: thinking biology in the plural.

PubMed

Meloni, Maurizio

2017-09-01

The notion that biological memories of environmental experiences can be embedded in the human genome and even transmitted transgenerationally is increasingly relevant in the postgenomic world, particularly in molecular epigenetics, where the genome is conceptualized as porous to environmental signals. In this article I discuss the current rethinking of race in epigenetic rather than genetic terms, emphasizing some of its paradoxical implications, especially for public policy. I claim in particular that: (i) if sociologists want to investigate race in a postgenomic world they should pay more attention to this novel plastic and biosocial view of race; and (ii) there are no reasons to believe that an epigenetic view will extinguish race, or that soft-inheritance claims will produce a less exclusionary discourse than genetics (hard heredity). Quite the opposite, the ground for a re-racialization of social debates and the reinforcement of biological boundaries between groups are highlighted in the article. © London School of Economics and Political Science 2017.

Chromosome surveys of human populations: between epidemiology and anthropology.

PubMed

de Chadarevian, Soraya

2014-09-01

It is commonly held that after 1945 human genetics turned medical and focussed on the individual rather than on the study of human populations that had become discredited. However, a closer look at the research practices at the time quickly reveals that human population studies, using old and new tools, prospered in this period. The essay focuses on the rise of chromosome analysis as a new tool for the study of human populations. It reviews a broad array of population studies ranging from newborn screening programmes to studies of isolated or 'primitive' people. Throughout, it highlights the continuing role of concerns and opportunities raised by the propagation of atomic energy for civilian and military uses, the collection of large data bases and computers, and the role of international organisations like the World Health Organisation and the International Biological Programme in shaping research agendas and carving out a space for human heredity in the postwar era. Copyright © 2014 Elsevier Ltd. All rights reserved.

Does the central dogma still stand?

PubMed Central

2012-01-01

Abstract Prions are agents of analog, protein conformation-based inheritance that can confer beneficial phenotypes to cells, especially under stress. Combined with genetic variation, prion-mediated inheritance can be channeled into prion-independent genomic inheritance. Latest screening shows that prions are common, at least in fungi. Thus, there is non-negligible flow of information from proteins to the genome in modern cells, in a direct violation of the Central Dogma of molecular biology. The prion-mediated heredity that violates the Central Dogma appears to be a specific, most radical manifestation of the widespread assimilation of protein (epigenetic) variation into genetic variation. The epigenetic variation precedes and facilitates genetic adaptation through a general ‘look-ahead effect’ of phenotypic mutations. This direction of the information flow is likely to be one of the important routes of environment-genome interaction and could substantially contribute to the evolution of complex adaptive traits. Reviewers This article was reviewed by Jerzy Jurka, Pierre Pontarotti and Juergen Brosius. For the complete reviews, see the Reviewers’ Reports section. PMID:22913395

Haldane's The causes of evolution and the Modern Synthesis in evolutionary biology.

PubMed

Sarkar, Sahotra

2017-11-01

This paper argues that Haldane's The causes of evolution was the most important founding document in the emergence of the received view of evolutionary theory which is typically referred to as the Modern Synthesis. Whether or not this historical development is characterized as a synthesis (which remains controversial), this paper argues the most important component of the emergence of the received view consisted of showing how the formal rules of Mendelian inheritance are based on (or emerge from) the material basis of heredity established by classical genetics primarily through the experimental work on Drosophila genetics of the Morgan school in the 1910s and 1920s. This is one of the most important achievements of Haldane's book. Thus this paper rejects both (i) the view that the synthesis was a unification of biometry and Mendelism and (ii) the claim that it arose from work primarily done in the late 1930s and 1940s by naturalists rather than theoretical population and classical experimental geneticists.

Evolutionary ethnobiology and cultural evolution: opportunities for research and dialog.

PubMed

Santoro, Flávia Rosa; Nascimento, André Luiz Borba; Soldati, Gustavo Taboada; Ferreira Júnior, Washington Soares; Albuquerque, Ulysses Paulino

2018-01-09

The interest in theoretical frameworks that improve our understanding of social-ecological systems is growing within the field of ethnobiology. Several evolutionary questions may underlie the relationships between people and the natural resources that are investigated in this field. A new branch of research, known as evolutionary ethnobiology (EE), focuses on these questions and has recently been formally conceptualized. The field of cultural evolution (CE) has significantly contributed to the development of this new field, and it has introduced the Darwinian concepts of variation, competition, and heredity to studies that focus on the dynamics of local knowledge. In this article, we introduce CE as an important theoretical framework for evolutionary ethnobiological research. We present the basic concepts and assumptions of CE, along with the adjustments that are necessary for its application in EE. We discuss different ethnobiological studies in the context of this new framework and the new opportunities for research that exist in this area. We also propose a dialog that includes our findings in the context of cultural evolution.

[Fabry's disease and hypoparathyroidism].

PubMed

Misery, Laurent; Gregoire, Madeleine; Prieur, Fabienne; Froissart, Régis; Guffon, Nathalie; Maitre, Séverine; Fond, Laurent; Denis, Laurence; Perrot, Jean-Luc; Cambazard, Frédéric

2002-06-01

Fabry's disease is due to alpha-galactosidase deficiency. This rare lysosomal storage disease is transmitted by recessive X-linked heredity. Sphingolipids (galactosyl-glucosyl-ceramide) accumulate in many organs. A 19-year-old man with known hypoparathyroidism presented with telangiectasia and angiokeratomas on the buttocks, the hips, the hands and around the navel. For many years, he suffered from paroxysmal pain in the hands and feet. From childhood, he had complained of diffuse abdominal pain, associated with diarrhea. Ophthalmological slit lamp fundus examination showed corneal telangiectasia and cornea verticella. There was no kidney or heart involvement. The diagnosis of Fabry's disease was confirmed by very low levels of alpha-galactosidase. We did not find any other association of hypoparathyroidism and Fabry's disease in the literature. Hypoparathyroidism is not a manifestation of Fabry's disease. Idiopathic hypoparathyroidism is very rare and a genetic origin is known. This disease can be recessive X-linked. A co-transmission of idiopathic hypoparathyroidism and Fabry's disease is probable in our patient.

Scientific discrimination and the activist scientist: L.C. Dunn and the professionalization of genetics and human genetics in the United States.

PubMed

Gormley, Melinda

2009-01-01

During the 1920s and 1930s geneticist L.C. Dunn of Columbia University cautioned Americans against endorsing eugenic policies and called attention to eugenicists' less than rigorous practices. Then, from the mid-1940s to early 1950s he attacked scientific racism and Nazi Rassenhygiene by co-authoring Heredity, Race and Society with Theodosius Dobzhansky and collaborating with members of UNESCO (United Nations Educational, Scientific, and Cultural Organization) on their international campaign against racism. Even though shaking the foundations of scientific discrimination was Dunn's primary concern during the interwar and post-World War II years, his campaigns had ancillary consequences for the discipline. He contributed to the professionalization of genetics during the 1920s and 1930s and sought respectability for human genetics in the 1940s and 1950s. My article aims to elucidate the activist scientist's role in undermining scientific discrimination by exploring aspects of Dunn's scientific work and political activism from the 1920s to 1950s. Definitions are provided for scientific discrimination and activist scientist.

Influence of heredity on human sensitivity to environmental chemicals

DOE Office of Scientific and Technical Information (OSTI.GOV)

Weber, W.W.

1995-12-31

Hereditary peculiarities in individual responses to environmental chemicals are a common occurrence in human populations. Genetic variation in glutathione S-transferase, CYP1A2, N-acetyltransferase, and paraoxonase exemplify the relationship of metabolic variation to individual susceptibility to cancer and other toxicants of environmental origin. Heritable receptor protein variants, a subset of proteins of enormous pharmacogenetic, potential that have not thus far been extensively explored form the pharmacogenetic standpoint, and also considered. Examples of interest that are considered include receptor variants associated with retinoic acid resistance in acute promyelocytic leukemia, with paradoxical responses to antiandrogens in prostate cancer, and with retinitis pigmentosa. Additional heritablemore » protein variants of pharmacogenetic interest that result in antibiotic-induced deafness, glucocorticoid-remediable aldosteronism and hypertension, the long-QT syndrome, and beryllium-induced lung disease are also discussed. These traits demonstrate how knowledge of the molecular basis and mechanism of the variant response may contribute to its prevention in sensitive persons as well as to improved therapy for genetically conditioned disorders that arise form environmental chemicals. 99 refs.« less

Cloning humans? Biological, ethical, and social considerations.

PubMed

Ayala, Francisco J

2015-07-21

There are, in mankind, two kinds of heredity: biological and cultural. Cultural inheritance makes possible for humans what no other organism can accomplish: the cumulative transmission of experience from generation to generation. In turn, cultural inheritance leads to cultural evolution, the prevailing mode of human adaptation. For the last few millennia, humans have been adapting the environments to their genes more often than their genes to the environments. Nevertheless, natural selection persists in modern humans, both as differential mortality and as differential fertility, although its intensity may decrease in the future. More than 2,000 human diseases and abnormalities have a genetic causation. Health care and the increasing feasibility of genetic therapy will, although slowly, augment the future incidence of hereditary ailments. Germ-line gene therapy could halt this increase, but at present, it is not technically feasible. The proposal to enhance the human genetic endowment by genetic cloning of eminent individuals is not warranted. Genomes can be cloned; individuals cannot. In the future, therapeutic cloning will bring enhanced possibilities for organ transplantation, nerve cells and tissue healing, and other health benefits.

Cloning humans? Biological, ethical, and social considerations

PubMed Central

Ayala, Francisco J.

2015-01-01

There are, in mankind, two kinds of heredity: biological and cultural. Cultural inheritance makes possible for humans what no other organism can accomplish: the cumulative transmission of experience from generation to generation. In turn, cultural inheritance leads to cultural evolution, the prevailing mode of human adaptation. For the last few millennia, humans have been adapting the environments to their genes more often than their genes to the environments. Nevertheless, natural selection persists in modern humans, both as differential mortality and as differential fertility, although its intensity may decrease in the future. More than 2,000 human diseases and abnormalities have a genetic causation. Health care and the increasing feasibility of genetic therapy will, although slowly, augment the future incidence of hereditary ailments. Germ-line gene therapy could halt this increase, but at present, it is not technically feasible. The proposal to enhance the human genetic endowment by genetic cloning of eminent individuals is not warranted. Genomes can be cloned; individuals cannot. In the future, therapeutic cloning will bring enhanced possibilities for organ transplantation, nerve cells and tissue healing, and other health benefits. PMID:26195738

[Haemophilia--then and now].

PubMed

Nilsson, I M

1994-01-01

Haemophilia is a bleeding disorder which has always attracted wide interest both among physicians and the laity--uncontrollable haemorrhage, blood that fails to coagulate and heredity with only males affected. The disease is probably best known to the public through its appearance in European royal families and in the Russian Imperial family. The oldest known description of haemophilia is to be found in the Talmud, the collection of ancient Judaic books from the early centuries of our era. The first clinical account of haemophilia was published by the American, Otto, in 1803. He described the disease as an inheritable bleeding disorder occurring only in males, and transmitted by female carriers who are not themselves affected. The disease manifests itself in early childhood, joint bleedings being its most characteristic feature. Otto called the male patients "bleeders". The term, haemophilia, originated with a German, Friedrich Hopff (1828), who coined the name "haemorrhaphilia" which was later abbreviated to haemophilia. ... As to future prospects, it is hoped that it will soon be possible to cure the disease by means of gene therapy, and to this end promising experimental work is already in progress.

The Croonian lectures of 1917: a McGill pathologist confronts the biologists of England.

PubMed

Buttolph, Mike

2010-11-01

John George Adami (1862-1926) qualified in medicine at Manchester and in 1892 was appointed professor of pathology at McGill University. At the invitation of the Royal College of Physicians (in London) he delivered the Croonian Lectures in 1917. He chose the title 'Adaptation and disease; the contribution of medical research to the study of evolution'. Adami believed that medical work had brought to light important facts about heredity that had not been communicated adequately to biological scientists. He used the lectures to describe this work, placing particular emphasis on his contention that acquired characters are inherited. At this time the medical audience at Adami's lectures would have been generally sympathetic to the idea that acquired characters can be inherited, though many leading British biologists were not sympathetic. Adami hoped that a concise review of the medical findings would persuade the biologists to his point of view or at least would be the starting point for a serious discussion of his evidence. However, the biologists were not persuaded and, although there were acrimonious personal exchanges, there was no scientific debate.

Improved genetic counseling in Alport syndrome by new variants of COL4A5 gene.

PubMed

Fernandez-Rosado, Francisco; Campos, Ana; Alvarez-Cubero, Maria Jesus; Ruiz, Ana; Entrala-Bernal, Carmen

2015-07-01

There are current requirements of using genetic databases for offering a better genetic assistance to patients of some syndromes, especially those with X-linked heredity patterns (like Alport Syndrome) for the high probability of having descendants affected by the disease. We describe the first reported case of COL4A5 gene missense c.1499 G>T mutation in a 16-year-old girl confirmed to be affected by Alport Syndrome after genetic counseling. Next Generation Sequencing procedures let discover this mutation and offer an accurate clinical treatment to this patient. Current scientific understanding of genetic syndromes suggests the high importance of updated databases and the inclusion of Variant of Unknown Significance related to clinical cases. All of this updating could enable patients to have a better opportunity of diagnosis and having genetic and clinical counseling. This event is even more important in women planning to start a family to have correct genetic counseling regarding the risk posed to offspring, and allowing the decision to undergo prenatal testing. © 2015 Asian Pacific Society of Nephrology.

Historical review: Autointoxication and focal infection theories of dementia praecox.

PubMed

Noll, Richard

2004-04-01

The popularity of theories of autointoxication and focal infection in general medicine and dentistry in the late nineteenth and early twentieth centuries led Emil Kraepelin and others to speculate that dementia praecox was caused by a poisoning of the brain from toxins produced in other parts of the body, notably the sex glands, the intestines and the mouth. Emil Kraepelin's commitment to the autointoxication theory is ignored in the literature on the history of psychiatry due to the focus of historians and clinicians on the major contributions of Kraepelin's methods of clinical psychopathology. Besides heredity, autointoxication and focal infection were the other most dominant theories of the organic aetiology of dementia praecox in the first three decades of its existence as a nosological entity in psychiatry. Rational treatments for dementia praecox that followed logically from these aetio-logical theories were colonic irrigations and major abdominal surgeries such as appendicostomies, colectomies and the removal of presumably infected ovaries, testes and other organs associated with reproduction. Autointoxication and focal infection theories disappeared from psychiatry by the mid-1930s.

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

PubMed

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.

Interatomic Coulombic Decay Effects in Theoretical DNA Recombination Systems Involving Protein Interaction Sites

NASA Astrophysics Data System (ADS)

Vargas, E. L.; Rivas, D. A.; Duot, A. C.; Hovey, R. T.; Andrianarijaona, V. M.

2015-03-01

DNA replication is the basis for all biological reproduction. A strand of DNA will ``unzip'' and bind with a complimentary strand, creating two identical strands. In this study, we are considering how this process is affected by Interatomic Coulombic Decay (ICD), specifically how ICD affects the individual coding proteins' ability to hold together. ICD mainly deals with how the electron returns to its original state after excitation and how this affects its immediate atomic environment, sometimes affecting the connectivity between interaction sites on proteins involved in the DNA coding process. Biological heredity is fundamentally controlled by DNA and its replication therefore it affects every living thing. The small nature of the proteins (within the range of nanometers) makes it a good candidate for research of this scale. Understanding how ICD affects DNA molecules can give us invaluable insight into the human genetic code and the processes behind cell mutations that can lead to cancer. Authors wish to give special thanks to Pacific Union College Student Senate in Angwin, California, for their financial support.

Genealogy and gene trees.

PubMed

Rasmuson, Marianne

2008-02-01

Heredity can be followed in persons or in genes. Persons can be identified only a few generations back, but simplified models indicate that universal ancestors to all now living persons have occurred in the past. Genetic variability can be characterized as variants of DNA sequences. Data are available only from living persons, but from the pattern of variation gene trees can be inferred by means of coalescence models. The merging of lines backwards in time leads to a MRCA (most recent common ancestor). The time and place of living for this inferred person can give insights in human evolutionary history. Demographic processes are incorporated in the model, but since culture and customs are known to influence demography the models used ought to be tested against available genealogy. The Icelandic data base offers a possibility to do so and points to some discrepancies. Mitochondrial DNA and Y chromosome patterns give a rather consistent view of human evolutionary history during the latest 100 000 years but the earlier epochs of human evolution demand gene trees with longer branches. The results of such studies reveal as yet unsolved problems about the sources of our genome.

Vienna-Chicago: the cultural transformation of the model system of the un-opposed molar.

PubMed

Luan, Xianghong; Diekwisch, Thomas G H

2007-08-01

The discussion over the roles of genes and environment on the phenotypical specification of organisms has held a central role in science philosophy since the late 19(th) century and has re-emerged in today's debate over genetic determinism and developmental plasticity. In fin-de-siecle Vienna, this debate coincided with a philosophical debate over empiricism/materialism versus idealism/vitalism. Turn-of-the-century Vienna's highly interdisciplinary environment was also the birthplace for the model system of the un-opposed molar. The un-opposed molar system features new tissue formation at the roots of teeth and tooth drift once opposing teeth are lost. The un-opposed molar model system was revived by a group of Viennese scientists who left Vienna during the Nazi period to address Vienna's questions about evolution and heredity and about genes and environment in Chicago's post-WWII scientific exile community. Here we are using the colorful history of the un-opposed molar to investigate the role of culture and method in the scientific evolution of a model system. (c) 2007 Wiley Periodicals, Inc.

Effects of air pollution on Lupinus in the Los Angeles area

DOE Office of Scientific and Technical Information (OSTI.GOV)

Dunn, D.B.

1959-10-01

Experiments were performed to evaluate the effects of air pollution on two groups of plants of the genus Lupinus. One group was used as controls and were grown under conditions approximating those in nature. The other group was given variations of temperature and daylength and was treated with filtered smog. The number of plants that survived under each of the different growth conditions was tabulated. The types of damage observed in Lupinus which have been considered as being due to smog varies from mild damage to death. No apparent vegetative damage could be observed on some of the plants, butmore » complete blocking of the floral development, during periods of smog could be detected. On other plants both vegetative damage and the blocking of floral development was observed. It is evident that susceptibility and resistance to smog, within the subspecific taxa of a single species, suggests that the heredity of the plants is involved, giving some of the plants a marked advantage in survival in the Los Angeles area.« less

Chronic non-communicable diseases, risk and health promotion: social construction of VIGITEL participants.

PubMed

Mássimo, Erika de Azevedo Leitão; de Souza, Hercília Najara Ferreira; Freitas, Maria Imaculada de Fátima

2015-03-01

The dimension of choice and adherence to healthy lifestyles is in the area of social constructions made in representations of individuals and had not yet been included in the Surveillance of Risk and Protective Factors for Chronic Diseases by Telephone Survey (VIGITEL) analysis systems. This article aims to understand, in individual narratives, representations contained in the trajectories of people's lives selected from the 2010 VIGITEL sample, in Belo Horizonte, Minas Gerais. It is a qualitative study based on Social Representation Theory. Thirty in-depth and open interviews with subjects selected from the 2010 VIGITEL sample were conducted in Belo Horizonte in the State of Minas Gerais. The Structural Analysis of Narrative technique was used to reveal the content of speeches. Age and heredity representations related to NCDs are part of the spectrum of current scientific information. Learning from childhood onwards is the basis of care. The lack of comprehension of the pathophysiology of NCDs, and the depth of representations of illness and death related to communicable diseases, is partly responsible for the difficulty of preventing NCDs.

Is eye damage caused by stereoscopic displays?

NASA Astrophysics Data System (ADS)

Mayer, Udo; Neumann, Markus D.; Kubbat, Wolfgang; Landau, Kurt

2000-05-01

A normal developing child will achieve emmetropia in youth and maintain it. Thereby cornea, lens and axial length of the eye grow astonishingly coordinated. In the last years research has evidenced that this coordinated growing process is a visually controlled closed loop. The mechanism has been studied particularly in animals. It was found that the growth of the axial length of the eyeball is controlled by image focus information from the retina. It was shown that maladjustment can occur by this visually-guided growth control mechanism that result in ametropia. Thereby it has been proven that e.g. short-sightedness is not only caused by heredity, but is acquired under certain visual conditions. It is shown that these conditions are similar to the conditions of viewing stereoscopic displays where the normal accommodation convergence coupling is disjoint. An evaluation is given of the potential of damaging the eyes by viewing stereoscopic displays. Concerning this, different viewing methods for stereoscopic displays are evaluated. Moreover, clues are given how the environment and display conditions shall be set and what users shall be chosen to minimize the risk of eye damages.

A new genetic variant in the Sp1 binding cis-element of cholecystokinin gene promoter region and relationship to alcoholism.

PubMed

Harada, S; Okubo, T; Tsutsumi, M; Takase, S; Muramatsu, T

1998-05-01

Neuropeptide cholecystokinin (CCK) and the CCK receptors in the central nervous system mediate actions on increasing firings, anxiety, and nociceptions. Furthermore, CCK modulates the release of dopamine and dopamine-related behaviors in the mesolimbic pathway. In our study, genetic variation in the promoter and coding regions of the prepro-CCK gene were analyzed among 66 Japanese, 66 American Whites, 54 Chinese, and 41 Colombian natives. Two nucleotide sequence variants were found: a frequent mutation at nucleotide position -45 C to T involved in core sequence of Sp1 binding cis-element of the promoter region, and a C to T substitution at the 1662 position in intron 2. Analysis for the segregation study in 10 families of twins confirmed codominant heredity of two alleles. Distribution of genotypes and gene frequencies of 66 controls and 108 alcoholics in Japan presented that allelic variant T type in alcoholics was found in higher frequencies than that of controls, and distribution of these genotypes was significantly different between the both groups.

In vitro eugenics.

PubMed

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.

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

PubMed

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.

PubMed

Cribier, B

2017-01-01

Atopic dermatitis has been described under many names before the XXth century, and first illustrated in the early XIXth century. This article presents historical images from the first volumes of Robert Willan to the Pratique dermatologique, the first encyclopedy published in 1900. Many accurate clinical descriptions of the disease can be found in the early treaties of dermatology, including the one published by Thomas Carrere in 1740. Since then, Alibert and Rayer in France, Hebra and Neumann in Vienna and Duhring and Fox in the USA illustrated their atlases with spectacular images of adults or children suffering from AD, or from other diseases that might have been considered as eczema infantile. Color engravings, color lithographs and black and white photographs showed with an increasing precision the semiology of AD, in the context of artistic representations of high quality, that have not been surpassed by modern photographs. At the beginning of the XXth century the clinical presentation, the course and heredity of the disease were perfectly established, introducing a new era of research in physiopathology and treatment in the following decades. © 2017 Elsevier Masson SAS. Tous droits réservés.

Nutrigenomics/Nutrigenetics.

PubMed

Mitroi, Nicoleta; Moţa, Maria

2008-01-01

Since Hippocrates it is known that nutrition plays a very important role in maintaining health, people being advised to consider "food intake as a real medicine". Modern science shows that important and necessary for an optimal state of health is not only the intake of some specific nutrients, but, above all, specific quantities of each and every nutrient which are to be taken. New notions have consequently appeared, such as dietetic recommendations and nutritional epidemiology. At the same time, it has been emphasized that nutrition can directly contribute to diseases appearance (nutrients/food generally interact with the genes in a "benign" way, but in some circumstances this interaction can also have fatal consequences). Human development is influenced by both environmental factors (diet, smoking, education, physical activity etc.) and heredity; both factors should be given equal attention, if our aim is to maintain the state of health. Experimental studies are often dedicated either only to the influence of environmental factors or exclusively to genes' influence and not to both simultaneously [4]. Modern techniques and methods of study are designed to solve the problem.

Public understandings of genetics and health.

PubMed

Condit, C M

2010-01-01

This review of adult public understandings of genetics related to health indicates that the public's understandings overlap with those of professionals in some areas, but not others. Specifically, the majority of the world's people who have been studied understand genetics through the lens of heredity, not in terms of the structural and functional nature of genes. Public understandings of hereditary processes are influenced by models of social relationships and by experiential familiarity with particular conditions as much as by academic research results. Most people hold a fairly strong belief that many health conditions are substantially influenced by both genes and other factors. However, they do not have a stable understanding of the nature of gene-environment interactions. People in cultures where science is not a prominent cultural mode are even less likely to hold the belief structures of professional geneticists. In some areas--notably with regard to racialization of genetic medicine and characterizations of genetic variations as 'mutations'--at least some members of the public strongly reject some geneticists' constructions. Public understanding of details pertinent to genetic testing generally appears to be weak.

Gravity, weightlessness and the genetic structures of organisms.

PubMed

Dubinin, N P; Vaulina, E N

1974-01-01

The whole evolution of life on earth has proceeded under the action of earth's gravity which must have influenced the structure and function of organisms. During space flights organisms are exposed to the entirely new condition of weightlessness, and to variations in gravity that produce various changes. Current flight data suggest that organisms most often respond to weightlessness by disturbances in physiological function, which are reversible after the brief exposures that have at present been possible. Only longer space flights will show whether these changes will be compensated, or will lead to alterations in the more important systems of organisms including their hereditary properties. There is evidence that weightlessness has a direct effect on genetic properties. Thus, in microspores of Tradescantia abnormal mitoses (that were not observed in the ground-based control) were recorded to an extent of 3%. The numerous changes in various vital systems suggest that for terrestrial organisms weightlessness is a factor which, if administered for a long time, may bring about serious disturbances in their activities and heredity. The higher the evolutionary position of the organism, the more pronounced the effect is likely to be.

Genetic rules for the dermatoglyphics of human fingertips and their role in spouse selection: a preliminary study.

PubMed

Yang, Xiao; Xiaojun, Jin; Yixuan, Zhou; Hui, Liu

2016-01-01

We assessed the genetic rules for the dermatoglyphics of human fingertips. We also evaluated the correlation between spouse selection with the number of whorls on fingertips. Data were collected for the number of whorls from 118 families (couples and their children). Distribution of whorls was analyzed further to investigate the relationship between heredity and spouse selection. Through multiple regression analysis, we found that the number of whorls on fingertips was affected considerably by genetic factors. In a married couple with a moderate number of whorls, the probability of their children having a high number of whorls was 26.5 %, and the probability of their children having a low number of whorls was 23.5. These values were close to the theoretical value (25 %). A significant correlation between whorl count between spouses was observed. These data suggest that whorls are inherited from a single gene or a group of closely linked genes. Our findings provide an initial insight on the potential contribution of biologic characteristics on spouse selection.

Angiotensinogen gene polymorphism predicts hypertension, and iridological constitutional classification enhances the risk for hypertension in Koreans.

PubMed

Cho, Joo-Jang; Hwang, Woo-Jun; Hong, Seung-Heon; Jeong, Hyun-Ja; Lee, Hye-Jung; Kim, Hyung-Min; Um, Jae-Young

2008-05-01

This study investigated the relationship between iridological constitution and angiotensinogen (AGN) gene polymorphism in hypertensives. In addition to angiotensin converting enzyme gene, AGN genotype is also one of the most well studied genetic markers of hypertension. Furthermore, iridology, one of complementary and alternative medicine, is the diagnosis of the medical conditions through noting irregularities of the pigmentation in the iris. Iridological constitution has a strong familial aggregation and is implicated in heredity. Therefore, the study classified 87 hypertensive patients with familial history of cerebral infarction and controls (n = 88) according to Iris constitution, and determined AGN genotype. As a result, the AGN/TT genotype was associated with hypertension (chi2 = 13.413, p < .05). The frequency of T allele was 0.92 in patients and 0.76 in controls (chi2 = 13.159, p < .05). In addition, iridological constitutional classification increased the relative risk for hypertension in the subjects with AGN/T allele. These results suggest that AGN polymorphism predicts hypertension, and iridological constitutional classification enhances the risk for hypertension associated with AGN/T in a Korean population.

The prisoner's dilemma as a cancer model.

PubMed

West, Jeffrey; Hasnain, Zaki; Mason, Jeremy; Newton, Paul K

2016-09-01

Tumor development is an evolutionary process in which a heterogeneous population of cells with different growth capabilities compete for resources in order to gain a proliferative advantage. What are the minimal ingredients needed to recreate some of the emergent features of such a developing complex ecosystem? What is a tumor doing before we can detect it? We outline a mathematical model, driven by a stochastic Moran process, in which cancer cells and healthy cells compete for dominance in the population. Each are assigned payoffs according to a Prisoner's Dilemma evolutionary game where the healthy cells are the cooperators and the cancer cells are the defectors. With point mutational dynamics, heredity, and a fitness landscape controlling birth and death rates, natural selection acts on the cell population and simulated 'cancer-like' features emerge, such as Gompertzian tumor growth driven by heterogeneity, the log-kill law which (linearly) relates therapeutic dose density to the (log) probability of cancer cell survival, and the Norton-Simon hypothesis which (linearly) relates tumor regression rates to tumor growth rates. We highlight the utility, clarity, and power that such models provide, despite (and because of) their simplicity and built-in assumptions.

After initial treatment for primary breast cancer: information needs, health literacy, and the role of health care workers.

PubMed

Schmidt, Anna; Ernstmann, Nicole; Wesselmann, Simone; Pfaff, Holger; Wirtz, Markus; Kowalski, Christoph

2016-02-01

After a short hospital stay of just some days follows long-term outpatient care for breast cancer patients. The aim of the study is to describe the information needs of breast cancer outpatients and to get in touch with aspects of health literacy, as well as contact various health care workers. In a multicenter study, patients were asked about their information needs 10 weeks after surgery. The analysis on hand includes data about 1248 female patients. In addition to descriptive analyses identifying the most prevalent information needs, logistic regression analyses were calculated to identify factors associated with these. The results show that information needs of breast cancer outpatients are mainly in "follow-up after acute treatment", "coping with long-term side effects", and "heredity of breast cancer". In addition to sociodemographic patient characteristics, perceived helpful contacts with various health care workers as well as a satisfactory patient's level of health literacy reduced the probability of unmet information needs. Breast cancer outpatients have numerous information needs. In addition to provide information at the right time regarding a specific disease phase, it is important that health professionals' support affected breast cancer patients in coping with the new situation.

Viscous-to-viscoelastic transition in phononic crystal and metamaterial band structures.

PubMed

Frazier, Michael J; Hussein, Mahmoud I

2015-11-01

The dispersive behavior of phononic crystals and locally resonant metamaterials is influenced by the type and degree of damping in the unit cell. Dissipation arising from viscoelastic damping is influenced by the past history of motion because the elastic component of the damping mechanism adds a storage capacity. Following a state-space framework, a Bloch eigenvalue problem incorporating general viscoelastic damping based on the Zener model is constructed. In this approach, the conventional Kelvin-Voigt viscous-damping model is recovered as a special case. In a continuous fashion, the influence of the elastic component of the damping mechanism on the band structure of both a phononic crystal and a metamaterial is examined. While viscous damping generally narrows a band gap, the hereditary nature of the viscoelastic conditions reverses this behavior. In the limit of vanishing heredity, the transition between the two regimes is analyzed. The presented theory also allows increases in modal dissipation enhancement (metadamping) to be quantified as the type of damping transitions from viscoelastic to viscous. In conclusion, it is shown that engineering the dissipation allows one to control the dispersion (large versus small band gaps) and, conversely, engineering the dispersion affects the degree of dissipation (high or low metadamping).

Genetic concepts in Greek literature from the eighth to the fourth century B.C.

PubMed

Bazopoulou-Kyrkanidou, E

1992-03-01

A review of the concepts of genetics found in epic, historical and dramatic ancient Greek writings from the eighth to the fourth centuries B.C., is presented. The derived data suggest that the development of genetical concepts and ideas started with the praise of the heroes' divine or noble origin in Homer's epic poems (eighth century B.C.). It continued in the tracing of the descent and vicissitudes of the families of the Greek gods and the common ancestry of the Greek tribes as described in Hesiod's genealogical poems (around 700 B.C.), in the statement of descent and dual parenthood of leaders and kings in the books of Herodotus and Xenophon (fifth and fourth centuries B.C.), and in the concern about the lineage of the tragic figures in Greek drama (fifth century B.C.). The genetical concepts expressed in these writings most probably reflected popular notions of that time. They must, therefore, have been the basis of the perceptions and theories on heredity and procreation expressed by the ancient physicians and philosophers in the fifth and fourth centuries B.C., which in turn influenced the development of genetics for many centuries.

Dopamine-related genes and their relationships to monoamine metabolites in CSF.

PubMed

Jönsson, E; Sedvall, G; Brené, S; Gustavsson, J P; Geijer, T; Terenius, L; Crocq, M A; Lannfelt, L; Tylec, A; Sokoloff, P; Schwartz, J C; Wiesel, F A

1996-11-15

Monoamine metabolite (MM) levels in lumbar cerebrospinal fluid (CSF) are extensively used as indirect estimates of monoamine turnover in the brain. In this study we investigated genotypes for DNA polymorphisms in the D2 (DRD2), D3 (DRD3), and D4 (DRD4) dopamine receptor and tyrosine hydroxylase (TH) genes and their relationships to CSF MM in healthy volunteers (n = 66). Concentrations of homovanillic acid (HVA), 3-methoxy-4-hydroxyphenylglycol (MHPG), and 5-hydroxyindoleacetic acid (5-HIAA) were corrected for back length, a confounding variable. Corrected MM levels were not related to age, gender, height, weight heredity, season or atmospheric pressure at sampling. Individuals with specific DRD2 and TH allele and genotype configurations significantly differed in HVA and MHPG concentrations. DRD3 homo- and heterozygotic genotypes had significantly different CSF 5-HIAA levels. DRD4 genotypes were not related to MM concentrations. The results suggest that specific DRD2, DRD3, and TH genotypes participate in the regulation of monoamine turnover in the central nervous system. Accordingly monoamine receptors and synthesizing enzyme genotypes appear to be variance factors influencing MM concentrations in CSF. The relationships found in this study support MM concentrations as markers for monoamine transmission in the human brain.

Cell biology solves mysteries of reproduction.

PubMed

Sutovsky, Peter

2012-09-01

Reproduction and fertility have been objects of keen inquiry since the dawn of humanity. Medieval anatomists provided the first accurate depictions of the female reproductive system, and early microscopists were fascinated by the magnified sight of sperm cells. Initial successes were achieved in the in vitro fertilization of frogs and the artificial insemination of dogs. Gamete and embryo research was in the cradle of modern cell biology, providing the first evidence of the multi-cellular composition of living beings and pointing out the importance of chromosomes for heredity. In the 20th century, reproductive research paved the way for the study of the cytoskeleton, cell signaling, and the cell cycle. In the last three decades, the advent of reproductive cell biology has brought us human in vitro fertilization, animal cloning, and human and animal embryonic stem cells. It has contributed to the development of transgenesis, proteomics, genomics, and epigenetics. This Special Issue represents a sample of the various areas of reproductive biology, with emphasis on molecular and cell biological aspects. Advances in spermatology, ovarian function, fertilization, and maternal-fetal interactions are discussed within the framework of fertility and diseases such as endometriosis and diabetes.

Was Aristotle the 'father' of the epigenesis doctrine?

PubMed

Goy, Ina

2018-04-04

Was Aristotle the 'father' and founder of the epigenesis doctrine? Historically, I will argue, this question must be answered with 'no'. Aristotle did not initiate and had no access to a debate that described itself in terms of 'epigenesis' and 'preformation', and thus cannot be considered the 'father' or founder of the epigenesis-preformation controversy in a literal sense. But many ancient accounts of reproduction and embryological development contain analogies to what early modern scientist called 'epigenesis' and 'preformation', and, in this analogous sense, Aristotle can be considered a precursor of the epigenesis-preformation controversy. But is Aristotle's position actually epigenetic (in this analogous sense), as most of the traditional interpreters hold, or preformationist, as some of the recent scholars believe? I will argue against the one-sidedness of both readings that Aristotle's account of reproduction and heredity contains mainly epigenetic, but also a few preformationist characteristics. Whereas, for instance, Aristotle's idea of a successive development of the embryo's parts is doubtlessly epigenetic, Aristotle's idea that the development of the embryo is an actualization and enlargement of potential parts, which are simultaneously present in the semen, can be considered a preformationist feature.

Colorectal Cancer in Iran: Molecular Epidemiology and Screening Strategies

PubMed Central

Dolatkhah, Roya; Somi, Mohammad Hossein; Bonyadi, Mortaza Jabbarpour; Asvadi Kermani, Iraj; Farassati, Faris; Dastgiri, Saeed

2015-01-01

Purpose. The increasing incidence of colorectal cancer (CRC) in the past three decades in Iran has made it a major public health burden. This study aimed to report its epidemiologic features, molecular genetic aspects, survival, heredity, and screening pattern in Iran. Methods. A comprehensive literature review was conducted to identify the relevant published articles. We used medical subject headings, including colorectal cancer, molecular genetics, KRAS and BRAF mutations, screening, survival, epidemiologic study, and Iran. Results. Age standardized incidence rate of Iranian CRCs was 11.6 and 10.5 for men and women, respectively. Overall five-year survival rate was 41%, and the proportion of CRC among the younger age group was higher than that of western countries. Depending on ethnicity, geographical region, dietary, and genetic predisposition, mutation genes were considerably diverse and distinct among CRCs across Iran. The high occurrence of CRC in records of relatives of CRC patients showed that family history of CRC was more common among young CRCs. Conclusion. Appropriate screening strategies for CRC which is amenable to early detection through screening, especially in relatives of CRCs, should be considered as the first step in CRC screening programs. PMID:25685149

A controversial idea as a cultural resource: The Lysenko controversy and discussions of genetics as a 'democratic' science in postwar Japan.

PubMed

Iida, Kaori

2015-08-01

The Japanese discussion of the theory of Soviet agronomist Trofim D. Lysenko began in the postwar years under the American occupation. Leftists introduced Lysenko's theory immediately after the war as part of a postwar scientists' movement. Unlike many American geneticists, who sharply criticized the theory, Japanese geneticists initially participated in the discussion in an even-handed way; their scientific interests in the roles of cytoplasm and the environment in heredity shaped their initial sympathetic reaction. As the Cold War divide deepened, however, Japanese scientists began expressing sharp anti-Lysenko criticisms that resembled the American criticisms. Interestingly, throughout the period, Japanese geneticists' overall aim in the discussion remained largely unchanged: to effectively reconstruct their discipline and maintain its proper image and authority. However, the shift in their reaction occurred due to an evolving sociopolitical context, especially the shift in the meaning of 'democratic' science from a science that employed democratic processes to a science of a liberal-democratic state. Regarding Lysenko's idea as a cultural resource could help to explain how and why it was treated differently in different places, and why a controversy emerged in certain contexts but not in others.

One More Legacy of Paul F. Brandwein: Creating Scientists

NASA Astrophysics Data System (ADS)

Fort, Deborah C.

2011-06-01

This paper studies the influence of Paul F. Brandwein, author, scientist, teacher and mentor, publisher, humanist, and environmentalist, on gifted youngsters who later became scientists, based primarily on information gathered from surveys completed by 25 of his students and one colleague. It also traces his profound interactions with science educators. It illuminates the theories of Brandwein and his protégés and colleagues about the interaction of environment, schooling, and education and Brandwein's belief in having students do original research (that is, research whose results are unknown) on their way to discovering their future scientific paths. It tests Brandwein's 1955 hypothesis on the characteristics typical of the young who eventually become scientists, namely: Three factors are considered as being significant in the development of future scientists: a Genetic Factor with a primary base in heredity (general intelligence, numerical ability, and verbal ability); a Predisposing Factor, with a primary base in functions which are psychological in nature; an Activating Factor, with a primary base in the opportunities offered in school and in the special skills of the teacher. High intelligence alone does not make a youngster a scientist (p xix).

Parental smoking and other risk factors for wheezing bronchitis in children.

PubMed

Rylander, E; Pershagen, G; Eriksson, M; Nordvall, L

1993-09-01

A population-based case-control study was performed to investigate etiologic factors for wheezing bronchitis and asthma in children up to four years of age. A total of 199 children hospitalized for the first time with these diagnoses at a major hospital in Stockholm in 1986-1988 constituted the cases, 351 children from the catchment area of the hospital were used as controls. Information on known and suspected risk factors was obtained through home interviews with a parent. Parental smoking was associated with a relative risk of 1.8 (95% confidence interval 1.3-2.6) corresponding to a population attributable proportion of 27%. The strongest association was seen for maternal smoking and children below 18 months of age. Other major risk factors included atopic heredity, recurrent upper respiratory tract infections and breast-feeding less than 3 months, which appeared to interact multiplicatively with parental smoking. The environmental factors had a stronger influence in the youngest age group, and the overall attributable proportion associated with parental smoking, short breast-feeding period and exposure to pets in the household was 43%. It is clear that successful primary prevention could dramatically reduce the incidence of wheezing bronchitis in children.

Chromosomenindividualität or Entmischung? The debate between Paolo Della Valle and Edmund B. Wilson.

PubMed

Volpone, Alessandro

2015-01-01

At the beginning of the twentieth century, the Italian cytologist Paolo Della Valle developed a theory of instable chromosomes (teoria dei cromosomi labili). He radically criticized the so-called Sutton-Boveri hypothesis (Martins and Martins, Genetics and Molecular Biology, 22:261-271, 1999), focusing on numerical constancy in the species and individuality. On the basis of bibliographical review and personal observations, he maintained that the chromosomes were neither stable bodies, nor permanent structures, but transitory cellular materials, resulting from the periodical rearrangement of the chromatin during the cell division. German and English-speaking biologists reacted. The paper shows some content of the argumentations used by Thomas H. Montgomery and especially Edmund B. Wilson. The discussion was characterized by the same data which is interpretedby different scholars in different ways. And the point is that no one of them had the decisive test to demonstrate his own point of view. Wilson simply invoked on his behalf a certain 'common sense', defending at least a 'high degree of constancy'. The debate waned along with the reception of Morgan's chromosome theory of heredity, but only the advent of molecular biology definitively stated the nature of chromosomes as permanent structures of the cell.

Predicting dyslexia at age 11 from a risk index questionnaire at age 5.

PubMed

Helland, Turid; Plante, Elena; Hugdahl, Kenneth

2011-08-01

This study focused on predicting dyslexia in children ahead of formal literacy training. Because dyslexia is a constitutional impairment, risk factors should be seen in preschool. It was hypothesized that data gathered at age 5 using questions targeting the dyslexia endophenotype should be reliable and valid predictors of dyslexia at age 11. A questionnaire was given to caretakers of 120 5-year-old children, and a risk index score was calculated based on questions regarding health, laterality, motor skills, language, special needs education and heredity. An at-risk group (n = 25) and matched controls (n = 24) were followed until age 11, when a similar questionnaire and literacy tests were administered to the children who participated in the follow-up study (22 at risk and 20 control). Half of the at-risk children and two of the control children at age 5 were identified as having dyslexia at age 11 (8 girls and 5 boys). It is concluded that it is possible to identify children at the age of 5 who will have dyslexia at the age of 11 through a questionnaire approach. Copyright © 2011 John Wiley & Sons, Ltd.

Gene therapy: advances, challenges and perspectives

PubMed Central

Gonçalves, Giulliana Augusta Rangel; Paiva, Raquel de Melo Alves

2017-01-01

ABSTRACT The ability to make site-specific modifications to the human genome has been an objective in medicine since the recognition of the gene as the basic unit of heredity. Thus, gene therapy is understood as the ability of genetic improvement through the correction of altered (mutated) genes or site-specific modifications that target therapeutic treatment. This therapy became possible through the advances of genetics and bioengineering that enabled manipulating vectors for delivery of extrachromosomal material to target cells. One of the main focuses of this technique is the optimization of delivery vehicles (vectors) that are mostly plasmids, nanostructured or viruses. The viruses are more often investigated due to their excellence of invading cells and inserting their genetic material. However, there is great concern regarding exacerbated immune responses and genome manipulation, especially in germ line cells. In vivo studies in in somatic cell showed satisfactory results with approved protocols in clinical trials. These trials have been conducted in the United States, Europe, Australia and China. Recent biotechnological advances, such as induced pluripotent stem cells in patients with liver diseases, chimeric antigen receptor T-cell immunotherapy, and genomic editing by CRISPR/Cas9, are addressed in this review. PMID:29091160

Absorption Kinetics of Phage Lambda on Its Host Under Shear Flow

NASA Astrophysics Data System (ADS)

Yip, C. W.; Wu, X. L.

2000-03-01

Classical blender experiment by Hershey and Chase played a seminal role in illustrating the infectious process of bacteriophage to its host, and showed unequivocally that DNA is responsible for the transmission of heredity. Subsequent works by others have established that interaction between phage particles and bacterial cells is a diffusion-limited process in that, statistically speaking, each collision results in an irreversible infection. However, such a result is hard to reconcile with the fact that the infection appears to be independent of the density of phage receptors on the bacterial cell membrane. Thus, quantitative experiments showing how a phage finds its receptor and how long does it take would be valuable to this paradoxical view. Simple calculations based on Brownian motion of the phage particles show that the interaction time between the receptor and the phage is given by tau=b^2/(5D), where b is the length of the phage and D is its diffusion coefficient. Using a shear flow apparatus we study absorption kinetics of lambda phage on E. Coli (strain YMEL) under different flow conditions, and the results are compared with a simple diffusion model taking into account the hydrodynamic convection and the interaction time tau.

‘Semen Contains Vitality and Heredity, Not Germs’: Seminal Discourse in the AIDS Era

PubMed Central

Hudson-Rodd, Nancy; Saggers, Sherry; Bhuiyan, Mahbubul Islam; Bhuiya, Abbas; Karim, Syed Afzalul; Rauyajin, Oratai

2006-01-01

Perspectives of public health generally ignore culture-bound sexual health concerns, such as semen loss, and primarily attempt to eradicate sexually transmitted infections (STIs), including human immunodeficiency virus (HIV). Like in many other countries, sexual health concerns of men in Bangladesh have also received less attention compared to STIs in the era of AIDS. This paper describes the meanings of non-STI sexual health concerns, particularly semen loss, in the masculinity framework. In a qualitative study on male sexuality, 50 men, aged 18–55 years, from diverse sociodemographic backgrounds and 10 healthcare practitioners were interviewed. Men considered semen the most powerful and vital body fluid representing their sexual performance and reproductive ability. Rather than recognizing the vulnerability to transmission of STIs, concerns about semen were grounded in the desire of men to preserve and nourish seminal vitality. Traditional practitioners supported semen loss as a major sexual health concern where male heritage configures male sexuality in a patriarchal society. Currently, operating HIV interventions in the framework of disease and death may not ensure participation of men in reproductive and sexual health programmes and is, therefore, less likely to improve the quality of sexual life of men and women. PMID:17591339

Recent progress in exobiology and planetary biology

NASA Technical Reports Server (NTRS)

Jukes, T. H.

1981-01-01

Recent work in the fields of exobiology, the study of the possible characteristics of extraterrestrial life, and planetary biology, the study of life forms as a function of planetary conditions, is reviewed. Searches conducted for life on Mars by the Viking Landers and on Titan by Voyager 1 are considered, and the origin of life on earth is considered in relation to the question of the inorganic trace elements in living systems that are required for life. The question of the origin of terrestrial life from spores carried through the interstellar medium is examined, and the unlikelihood of the survival of such spores except within meteorites or dust particles is pointed out. Studies of organic molecules present in the interstellar medium are indicated as evidence that the conditions necessary for the formation of life can exist in various locations throughout the universe. Investigations of the molecular evolution of life on earth and of life under extreme conditions of heat, cold, drought and ultraviolet radiation, and of the organic compounds found in meteorites and comets are also discussed. The importance of a mechanism of heredity, such as terrestrial DNA, to the evolution of terrestrial and possible extraterrestrial life is pointed out.

Human population studies and the World Health Organization.

PubMed

de Chadarevian, Soraya

2015-01-01

This essay draws attention to the role of the WHO in shaping research agendas in the biomedical sciences in the postwar era. It considers in particular the genetic studies of human populations that were pursued under the aegis of the WHO from the late 1950s to 1970s. The study provides insights into how human and medical genetics entered the agenda of the WHO. At the same time, the population studies become a focus for tracking changing notions of international relations, cooperation, and development and their impact on research in biology and medicine in the post-World War I era. After a brief discussion of the early history of the WHO and its position in Cold War politics, the essay considers the WHO program in radiation protection and heredity and how the genetic study of "vanishing" human populations and a world-wide genetic study of newborns fitted this broader agenda. It then considers in more detail the kind of support offered by the WHO for these projects. The essay highlights the role of single individuals in taking advantage of WHO support for pushing their research agendas while establishing a trend towards cooperative international projects in biology.

'Semen contains vitality and heredity, not germs': seminal discourse in the AIDS era.

PubMed

Khan, Sharful Islam; Hudson-Rodd, Nancy; Saggers, Sherry; Bhuiyan, Mahbubul Islam; Bhuiya, Abbas; Karim, Syed Afzalul; Rauyajin, Oratai

2006-12-01

Perspectives of public health generally ignore culture-bound sexual health concerns, such as semen loss, and primarily attempt to eradicate sexually transmitted infections (STIs), including human immunodeficiency virus (HIV). Like in many other countries, sexual health concerns of men in Bangladesh have also received less attention compared to STIs in the era of AIDS. This paper describes the meanings of non-STI sexual health concerns, particularly semen loss, in the masculinity framework. In a qualitative study on male sexuality, 50 men, aged 18-55 years, from diverse sociodemographic backgrounds and 10 healthcare practitioners were interviewed. Men considered semen the most powerful and vital body fluid representing their sexual performance and reproductive ability. Rather than recognizing the vulnerability to transmission of STIs, concerns about semen were grounded in the desire of men to preserve and nourish seminal vitality. Traditional practitioners supported semen loss as a major sexual health concern where male heritage configures male sexuality in a patriarchal society. Currently, operating HIV interventions in the framework of disease and death may not ensure participation of men in reproductive and sexual health programmes and is, therefore, less likely to improve the quality of sexual life of men and women.

Association between iris constitution and apolipoprotein e gene polymorphism in hypertensives.

PubMed

Um, Jae-Young; Hwang, Chung-Yeon; Hwang, Woo-Jun; Kang, Sung-Do; Do, Keum-Rok; Cho, Ju-Jang; Cho, Jae-Woon; Kim, Sung-Hoon; Shin, Tae-Yong; Kim, Yun-Kyung; Kim, Hyung-Min; Hong, Seung-Heon

2004-12-01

Iridology is a complementary and alternative medicine (CAM) that involves the diagnosis of medical conditions by noting irregularities of the pigmentation in the iris. Iris constitution has a strong familial aggregation and heredity is implicated. Apolipoprotein E (apoE) gene polymorphism is one of the most well-studied genetic markers for vascular diseases, including hypertension. In this study, we investigated the relationship between iris constitution and apoE polymorphism in hypertensives. We classified 87 hypertensives and 79 controls according to iris constitution and determined the apoE genotype of each individual. A significantly higher percentage of individuals with neurogenic constitutions was found in the hypertensive group when compared with the control group (chi(2) = 40.244, p < 0.001). In addition, a neurogenic constitution increased the relative risk for hypertension for subjects with an apo epsilon2 or an epsilon4 allele (chi(2) = 4.086, p = 0.049, odds ratio = 2.633, confidence interval = 1.004-6.905). Our results imply that a neurogenic iris constitution enhances the relative risk for hypertension in subjects with the apo epsilon2 or epsilon4 allele. Furthermore, we attempted to evaluate the efficacy of iris constitutional medicine and to find an association with hypertension.

Prevalence of pectus carinatum and pectus excavatum in students in the city of Manaus, Brazil.

PubMed

Westphal, Fernando Luiz; Lima, Luiz Carlos de; Lima Neto, José Corrêia; Chaves, Altair Rodrigues; Santos Júnior, Vítor Lazarini dos; Ferreira, Brena Luize Cunha

2009-03-01

To determine the prevalence of congenital anterior chest wall deformities in 11- to 14-year-old students. Students participating in the study were recruited from public schools in the city of Manaus, Brazil. The statistically significant sample (precision, 1%; 95% CI) comprised 1,332 students. Pectus deformities were identified by physical examination of the chest, and the individuals with one of these deformities completed a questionnaire regarding heredity and symptoms resulting from the chest abnormality. The mean age of the participants was 11.7 years. The prevalence of pectus abnormalities was 1.95% (pectus excavatum: 1.275%; pectus carinatum: 0.675%). Of the 26 students with a pectus deformity, 17 (65.4%) had pectus excavatum, and 18 (69.2%) were male. Concomitant scoliosis was observed in 3 cases (11.5%). A family history of pectus was reported by 17 students (65.4%), and 17 (65.4%) reported chest pain, dyspnea or palpitations. In this study, the prevalence of pectus deformities (1.95%) was lower than that reported in other studies conducted in Brazil (3.6-4.9%) but was higher than that reported in the literature (mean, 1%).

Northerners versus southerners: Italian anthropology and psychology faced with the "southern question".

PubMed

Cimino, Guido; Foschi, Renato

2014-11-01

Following the Unification of Italy (1861), when confronted with the underdevelopment problems of the south that had given rise to the so-called "southern question," some Italian anthropologists and psychologists began to study the populations of the south from the psycho-anthropological point of view. These scientists, at times subject to preconceived ideas toward the southerners, conveyed observations and descriptions of the southern character traits that, in general, were considered different, in a negative sense, with respect to those of the northern peoples. To explain such diversity in the "psychological" characteristics between the north and south of the country (presumed cause also of the south's backwardness), various hypotheses were advanced related to the kind of heredity theory adopted, which could be of, more or less, an "innatist" or "transformist" or "environmentalist" kind. The distinction proposed in this article between at least 2 different "hereditarian" theories formulated by the Italian scientists, and the confrontation of these theories with the hypotheses expressed by the "southernist" sociologists, contrary to the idea of "racial varieties" present in the Italian population, allows one to understand in what way and in what sense, at the threshold of the 20th century, there arose the ideology of "Nordicism" and the roots of racism were planted.

Diabetes Causation Beliefs Among Spanish-Speaking Patients.

PubMed

Concha, Jeannie Belinda; Mayer, Sallie D; Mezuk, Briana R; Avula, Danielle

2016-02-01

The purpose of this study was to explore how the inquiry of cultural diabetes causation beliefs can improve Hispanic/Latino patient self-management. Two semistructured focus groups were conducted with 13 Hispanic/Latinos adults diagnosed with type 2 diabetes mellitus. Prior to taking part in the group discussion, participants completed a demographic survey and the Illness Perception Questionnaire-Revised. The top 5 diabetes causation items endorsed by participants per the questionnaire included stress or worry, behavior, hereditary, diet/eating habits, and family problems/worries. The qualitative analysis revealed stress as a recurring theme for a cause of diabetes. Work stress was specifically identified as a contributor to unhealthy eating and diabetes. Most participants were aware of and believed in susto and referred to it as coraje (anger). Participants believed that asking patients about their diabetes causation beliefs and emotional status can help health professionals (1) better understand the patient and (2) identify and prioritize diabetes treatments. Participants also indicated that the role of doctors is important and the encouragement that they give to patients is clinically and spiritually valued. Stress was identified as a cause of diabetes in addition to unhealthy diets and heredity. Asking patients about diabetes causation beliefs and emotional status may help prioritize treatment and management goals. © 2015 The Author(s).

What’s in a Surname? Physique, Aptitude, and Sports Type Comparisons between Tailors and Smiths

PubMed Central

Voracek, Martin; Rieder, Stephan; Stieger, Stefan; Swami, Viren

2015-01-01

Combined heredity of surnames and physique, coupled with past marriage patterns and trade-specific physical aptitude and selection factors, may have led to differential assortment of bodily characteristics among present-day men with specific trade-reflecting surnames (Tailor vs. Smith). Two studies reported here were partially consistent with this genetic-social hypothesis, first proposed by Bäumler (1980). Study 1 (N = 224) indicated significantly higher self-rated physical aptitude for prototypically strength-related activities (professions, sports, hobbies) in a random sample of Smiths. The counterpart effect (higher aptitude for dexterity-related activities among Tailors) was directionally correct, but not significant, and Tailor-Smith differences in basic physique variables were nil. Study 2 examined two large total-population-of-interest datasets (Austria/Germany combined, and UK: N = 7001 and 20532) of men’s national high-score lists for track-and-field events requiring different physiques. In both datasets, proportions of Smiths significantly increased from light-stature over medium-stature to heavy-stature sports categories. The predicted counterpart effect (decreasing prevalences of Tailors along these categories) was not supported. Related prior findings, the viability of possible alternative interpretations of the evidence (differential positive selection for trades and occupations, differential endogamy and assortative mating patterns, implicit egotism effects), and directions for further inquiry are discussed in conclusion. PMID:26161803

Prostitutes and criminals: beginnings of eugenics in Croatia in the works of Fran Gundrum from Oriovac (1856-1919).

PubMed

Kuhar, Martin; Fatović-Ferencić, Stella

2012-04-01

Fran Gundrum (1856-1919) was a Croatian physician, encyclopedist, and an advocate of medical enlightenment and healthy lifestyle. In order to identify and analyze Gundrum's ideas about the problems of prostitution and criminality, we studied all of his books, booklets, and articles published between 1905 and 1914. We showed that Gundrum's theories of heredity, morality, and sexual hygiene incorporated many of the important discussions of his time, especially those related to the Darwinian paradigm. Gundrum's project of collecting statistics on prostitutes was the first such study published on the territory of today's Croatia. Although he rejected the notions of born prostitutes and born criminals, defended by Italian criminal anthropologist Cesare Lombroso, he still regarded eugenics as a convenient method of dealing with the ills of society. He believed that criminals were degenerate individuals representing a violent threat to the society and that it was legitimate to use radical means, such as sterilization and deportation, to deal with this problem. Organicistic view of the society prevented him from seeing the individual rights as important as that of the society to protect itself. Nevertheless, this view led to many humanistic ideas, such as the binomial illness/poverty in case of prostitution, which influenced many prominent works of social medicine movement.

Natural selection in chemical evolution.

PubMed

Fernando, Chrisantha; Rowe, Jonathan

2007-07-07

We propose that chemical evolution can take place by natural selection if a geophysical process is capable of heterotrophic formation of liposomes that grow at some base rate, divide by external agitation, and are subject to stochastic chemical avalanches, in the absence of nucleotides or any monomers capable of modular heredity. We model this process using a simple hill-climbing algorithm, and an artificial chemistry that is unique in exhibiting conservation of mass and energy in an open thermodynamic system. Selection at the liposome level results in the stabilization of rarely occurring molecular autocatalysts that either catalyse or are consumed in reactions that confer liposome level fitness; typically they contribute in parallel to an increasingly conserved intermediary metabolism. Loss of competing autocatalysts can sometimes be adaptive. Steady-state energy flux by the individual increases due to the energetic demands of growth, but also of memory, i.e. maintaining variations in the chemical network. Self-organizing principles such as those proposed by Kauffman, Fontana, and Morowitz have been hypothesized as an ordering principle in chemical evolution, rather than chemical evolution by natural selection. We reject those notions as either logically flawed or at best insufficient in the absence of natural selection. Finally, a finite population model without elitism shows the practical evolutionary constraints for achieving chemical evolution by natural selection in the lab.

Emergence of life: Physical chemistry changes the paradigm.

PubMed

Spitzer, Jan; Pielak, Gary J; Poolman, Bert

2015-06-10

Origin of life research has been slow to advance not only because of its complex evolutionary nature (Franklin Harold: In Search of Cell History, 2014) but also because of the lack of agreement on fundamental concepts, including the question of 'what is life?'. To re-energize the research and define a new experimental paradigm, we advance four premises to better understand the physicochemical complexities of life's emergence: (1) Chemical and Darwinian (biological) evolutions are distinct, but become continuous with the appearance of heredity. (2) Earth's chemical evolution is driven by energies of cycling (diurnal) disequilibria and by energies of hydrothermal vents. (3) Earth's overall chemical complexity must be high at the origin of life for a subset of (complex) chemicals to phase separate and evolve into living states. (4) Macromolecular crowding in aqueous electrolytes under confined conditions enables evolution of molecular recognition and cellular self-organization. We discuss these premises in relation to current 'constructive' (non-evolutionary) paradigm of origins research - the process of complexification of chemical matter 'from the simple to the complex'. This paradigm artificially avoids planetary chemical complexity and the natural tendency of molecular compositions toward maximum disorder embodied in the second law of thermodynamics. Our four premises suggest an empirical program of experiments involving complex chemical compositions under cycling gradients of temperature, water activity and electromagnetic radiation.

Characteristics of primary amphetamine users in Sweden: a criminal justice population examined with the Addiction Severity Index.

PubMed

Hakansson, A; Schlyter, F; Berglund, M

2009-01-01

Characteristics of primary amphetamine, heroin and cocaine users were compared in a criminal justice population. 7,085 clients with suspected or reported substance use were studied using the Addiction Severity Index. Variables separating amphetamine, heroin and cocaine users were analyzed in stepwise logistic regression. There were considerably more primary amphetamine users (n = 1,396) than heroin (n = 392) and cocaine (n = 119) users. Amphetamine users were older, a more rural population, and less likely to be non-Nordic immigrants. Compared with heroin, amphetamine use was associated with older age, Nordic origin, nonurban residence, memory/concentration problems, parental alcohol problems, and less history of other opioid use, overdose and detoxification. Compared with cocaine, amphetamine use was associated with older age, Nordic origin, nonurban residence, injecting, tobacco and institution treatment. Overlap of drug use between groups was relatively uncommon. This pattern of amphetamine use, common among Swedish criminals, has relatively distinct boundaries from heroin and cocaine use, commonly involves injecting, and differs from other countries. Psychiatric problems and alcohol heredity were common, and evidence-based treatment for amphetamine users is needed. The connection between amphetamine use and criminal behavior is insufficiently understood and should be further addressed. Copyright 2008 S. Karger AG, Basel.

Epiplasmins and epiplasm in paramecium: the building of a submembraneous cytoskeleton.

PubMed

Aubusson-Fleury, Anne; Bricheux, Geneviève; Damaj, Raghida; Lemullois, Michel; Coffe, Gérard; Donnadieu, Florence; Koll, France; Viguès, Bernard; Bouchard, Philippe

2013-07-01

In ciliates, basal bodies and associated appendages are bound to a submembrane cytoskeleton. In Paramecium, this cytoskeleton takes the form of a thin dense layer, the epiplasm, segmented into regular territories, the units where basal bodies are inserted. Epiplasmins, the main component of the epiplasm, constitute a large family of 51 proteins distributed in 5 phylogenetic groups, each characterized by a specific molecular design. By GFP-tagging, we analyzed their differential localisation and role in epiplasm building and demonstrated that: 1) The epiplasmins display a low turnover, in agreement with the maintenance of an epiplasm layer throughout the cell cycle; 2) Regionalisation of proteins from different groups allows us to define rim, core, ring and basal body epiplasmins in the interphase cell; 3) Their dynamics allows definition of early and late epiplasmins, detected early versus late in the duplication process of the units. Epiplasmins from each group exhibit a specific combination of properties. Core and rim epiplasmins are required to build a unit; ring and basal body epiplasmins seem more dispensable, suggesting that they are not required for basal body docking. We propose a model of epiplasm unit assembly highlighting its implication in structural heredity in agreement with the evolutionary history of epiplasmins. Copyright © 2013 Elsevier GmbH. All rights reserved.

The role of epigenetics in host-parasite coevolution: lessons from the model host insects Galleria mellonella and Tribolium castaneum.

PubMed

Vilcinskas, Andreas

2016-08-01

Recent studies addressing experimental host-parasite coevolution and transgenerational immune priming in insects provide evidence for heritable shifts in host resistance or parasite virulence. These rapid reciprocal adaptations may thus be transferred to offspring generations by either genetic changes or mechanisms that do not involve changes in the germline DNA sequence. Epigenetic inheritance refers to changes in gene expression that are heritable across generations and mediated by epigenetic modifications passed from parents to offspring. Highlighting the role of epigenetics in host-parasite coevolution, this review discusses the involvement of DNA methylation, histone acetylation/deacetylation and microRNAs in the interactions between bacterial or fungal parasites and model host insects such as the greater wax moth Galleria mellonella and the red flour beetle Tribolium castaneum. These epigenetic mechanisms are thought to participate in generation-spanning transcriptional reprogramming in the host insect, often linking immunity with developmentally related gene expression and contributing to the heredity of acquired adaptations. It is proposed that the interactions during host-parasite coevolution can therefore be expanded beyond reciprocal genetic changes to include reciprocal epigenetic changes. Epigenetics is thus a promising and prospering field in the context of host-parasite coevolution. Copyright © 2016 The Author. Published by Elsevier GmbH.. All rights reserved.

Epigenetics in Alzheimer's Disease: Perspective of DNA Methylation.

PubMed

Qazi, Talal Jamil; Quan, Zhenzhen; Mir, Asif; Qing, Hong

2018-02-01

Research over the years has shown that causes of Alzheimer's disease are not well understood, but over the past years, the involvement of epigenetic mechanisms in the developing memory formation either under pathological or physiological conditions has become clear. The term epigenetics represents the heredity of changes in phenotype that are independent of altered DNA sequences. Different studies validated that cytosine methylation of genomic DNA decreases with age in different tissues of mammals, and therefore, the role of epigenetic factors in developing neurological disorders in aging has been under focus. In this review, we summarized and reviewed the involvement of different epigenetic mechanisms especially the DNA methylation in Alzheimer's disease (AD), late-onset Alzheimer's disease (LOAD), familial Alzheimer's disease (FAD), and autosomal dominant Alzheimer's disease (ADAD). Down to the minutest of details, we tried to discuss the methylation patterns like mitochondrial DNA methylation and ribosomal DNA (rDNA) methylation. Additionally, we mentioned some therapeutic approaches related to epigenetics, which could provide a potential cure for AD. Moreover, we reviewed some recent studies that validate DNA methylation as a potential biomarker and its role in AD. We hope that this review will provide new insights into the understanding of AD pathogenesis from the epigenetic perspective especially from the perspective of DNA methylation.

Novel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing

PubMed Central

Lo, David; Weng, Jingning; Liu, xiaohong; Yang, Juhua; He, Fen; Wang, Yun; Liu, Xuyang

2016-01-01

PURPOSE To detect the disease-causing gene in a Chinese pedigree with autosomal-recessive retinitis pigmentosa (ARRP). METHODS All subjects in this family underwent a complete ophthalmic examination. Targeted-capture next generation sequencing (NGS) was performed on the proband to detect variants. All variants were verified in the remaining family members by PCR amplification and Sanger sequencing. RESULTS All the affected subjects in this pedigree were diagnosed with retinitis pigmentosa (RP). The compound heterozygous c.138delA (p.Asp47IlefsX24) and c.1841G>T (p.Gly614Val) mutations in the Crumbs homolog 1 (CRB1) gene were identified in all the affected patients but not in the unaffected individuals in this family. These mutations were inherited from their parents, respectively. CONCLUSION The novel compound heterozygous mutations in CRB1 were identified in a Chinese pedigree with ARRP using targeted-capture next generation sequencing. After evaluating the significant heredity and impaired protein function, the compound heterozygous c.138delA (p.Asp47IlefsX24) and c.1841G>T (p.Gly614Val) mutations are the causal genes of early onset ARRP in this pedigree. To the best of our knowledge, there is no previous report regarding the compound mutations. PMID:27806333

Cardiovascular disease prevention and lifestyle interventions: effectiveness and efficacy.

PubMed

Haskell, William L

2003-01-01

Over the past half century scientific data support the strong relationship between the way a person or population lives and their risk for developing or dying from cardiovascular disease (CVD). While heredity can be a major factor for some people, their personal health habits and environmental/cultural exposure are more important factors. CVD is a multifactor process that is contributed to by a variety of biological and behavioral characteristics of the person including a number of well-established and emerging risk factors. Not smoking, being physically active, eating a heart healthy diet, staying reasonably lean, and avoiding major stress and depression are the major components of an effective CVD prevention program. For people at high risk of CVD, medications frequently need to be added to a healthy lifestyle to minimize their risk of a heart attack or stroke, particularly in persons with conditions such as hypertension, hypercholesterolemia, or hyperglycemia. Maintaining an effective CVD prevention program in technologically advanced societies cannot be achieved by many high-risk persons without effective and sustained support from a well-organized health care system. Nurse-provided or nurse-coordinated care management programs using an integrated or multifactor approach have been highly effective in reducing CVD morbidity and mortality of high-risk persons.

VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).

PubMed

Feinstein, Miora; Flusser, Hagit; Lerman-Sagie, Tally; Ben-Zeev, Bruria; Lev, Dorit; Agamy, Orly; Cohen, Idan; Kadir, Rotem; Sivan, Sara; Leshinsky-Silver, Esther; Markus, Barak; Birk, Ohad S

2014-05-01

Progressive cerebello-cerebral atrophy (PCCA) leading to profound mental retardation, progressive microcephaly, spasticity and early onset epilepsy, was diagnosed in four non-consanguineous apparently unrelated families of Jewish Moroccan ancestry. Common founder mutation(s) were assumed. Genome-wide linkage analysis and whole exome sequencing were done, followed by realtime PCR and immunofluorescent microscopy. Genome-wide linkage analysis mapped the disease-associated gene to 0.5 Mb on chromosome 17p13.3. Whole exome sequencing identified only two mutations within this locus, which were common to the affected individuals: compound heterozygous mutations in VPS53, segregating as expected for autosomal recessive heredity within all four families, and common in Moroccan Jews (∼1:37 carrier rate). The Golgi-associated retrograde protein (GARP) complex is involved in the retrograde pathway recycling endocytic vesicles to Golgi; c.2084A>G and c.1556+5G>A VPS53 founder mutations are predicted to affect the C-terminal domain of VPS53, known to be critical to its role as part of this complex. Immunofluorescent microscopy demonstrated swollen and abnormally numerous CD63 positive vesicular bodies, likely intermediate recycling/late endosomes, in fibroblasts of affected individuals. Autosomal recessive PCCA type 2 is caused by VPS53 mutations.

The triple helix--NIH, industry, and the academic world.

PubMed Central

Lowe, C. U.

1982-01-01

Spectacular accomplishments in biomedical research have given birth to what is now perceived as a biological revolution, an epoch in which man has acquired the skill to manipulate the fundamental unit of heredity, the gene. This revolution carries with it the prospect of remarkable opportunities to improve the quality of life and to probe with increasing precision the mysteries of cellular organization and function. It comes, however, at a time when the opportunity to exploit this new knowledge may be limited by a significant reduction in federal support of basic research, and a situation which prompts universities and other centers of scientific activity to seek funding from industrial patrons. This trend has generated a new constellation of institutional challenges, for one apparent result of industrial sponsorship of university-based biomedical research is a threat to university governance as altered allegiances emerge and as the potential for financial gain appears almost limitless. This essay explores background issues leading to these new alliances, seeks to identify some of the central problems emerging for university administrators, faculty, and students, and then poses a key question: Can industrial support for university-based biomedical research fill the apparent short-fall in federal dollars in the foreseeable future? An analysis of available data indicates that this outcome is unlikely either now or in the years ahead. PMID:7180024

Diabetes Causation Beliefs Among Spanish-Speaking Patients

PubMed Central

Concha, Jeannie Belinda; Mayer, Sallie D.; Mezuk, Briana R.; Avula, Danielle

2016-01-01

Purpose The purpose of this study was to explore how the inquiry of cultural diabetes causation beliefs can improve Hispanic/Latino patient self-management. Methods Two semistructured focus groups were conducted with 13 Hispanic/Latinos adults diagnosed with type 2 diabetes mellitus. Prior to taking part in the group discussion, participants completed a demographic survey and the Illness Perception Questionnaire–Revised. Results The top 5 diabetes causation items endorsed by participants per the questionnaire included stress or worry, behavior, hereditary, diet/eating habits, and family problems/worries. The qualitative analysis revealed stress as a recurring theme for a cause of diabetes. Work stress was specifically identified as a contributor to unhealthy eating and diabetes. Most participants were aware of and believed in susto and referred to it as coraje (anger). Participants believed that asking patients about their diabetes causation beliefs and emotional status can help health professionals (1) better understand the patient and (2) identify and prioritize diabetes treatments. Participants also indicated that the role of doctors is important and the encouragement that they give to patients is clinically and spiritually valued. Conclusions Stress was identified as a cause of diabetes in addition to unhealthy diets and heredity. Asking patients about diabetes causation beliefs and emotional status may help prioritize treatment and management goals. PMID:26568376

[Prevalence of symptoms and risk factors of the gastro esophageal reflux disease at school students of the Republic of Tyva].

PubMed

Gritsinskaya, V L

2014-01-01

For the purpose of the analysis of risk factors of formation of a gastroesophageal reflux disease (GERD) in children's population of the Republic of Tyva examination of school students of Kyzyl is conducted. 2185 pupils (1746 schoolchildren of radical and 439 schoolchildren of the alien population) took part in research. Inspection included an interview by means of the questionnaire developed on the basis of a questionnaire of Mayo Clinic; clinical examination, somatometry and somatometry typing. 203 schoolchildren with complaints to heartburn the fibroesophagogastroduodenoscopy is carried out. Complaints to heartburn showed 11,8% of schoolchildren of radical and 16,6% of pupils of the alien population (p = 0,01). Weekly heartburn was noted by 1,4% of Tuvinians and 2,3% of pupils of the alien population. School students with complaints to heartburn in most cases have no endoscopic signs of damage of a gullet: esophagitis is revealed only at 1% surveyed. The risk of emergence of GERD is higher at the high school age, at the burdened heredity, early artificial feeding, existence of food allergy; the insufficient use of products with the high maintenance of a protein. Risk factors are also disharmonious physical development (high growth and excess body weight), the brahimorphious type of a constitution and accessory to macrosomatotype.

Prostitutes and criminals: beginnings of eugenics in Croatia in the works of Fran Gundrum from Oriovac (1856-1919)

PubMed Central

Kuhar, Martin; Fatović-Ferenčić, Stella

2012-01-01

Fran Gundrum (1856-1919) was a Croatian physician, encyclopedist, and an advocate of medical enlightenment and healthy lifestyle. In order to identify and analyze Gundrum’s ideas about the problems of prostitution and criminality, we studied all of his books, booklets, and articles published between 1905 and 1914. We showed that Gundrum’s theories of heredity, morality, and sexual hygiene incorporated many of the important discussions of his time, especially those related to the Darwinian paradigm. Gundrum’s project of collecting statistics on prostitutes was the first such study published on the territory of today's Croatia. Although he rejected the notions of born prostitutes and born criminals, defended by Italian criminal anthropologist Cesare Lombroso, he still regarded eugenics as a convenient method of dealing with the ills of society. He believed that criminals were degenerate individuals representing a violent threat to the society and that it was legitimate to use radical means, such as sterilization and deportation, to deal with this problem. Organicistic view of the society prevented him from seeing the individual rights as important as that of the society to protect itself. Nevertheless, this view led to many humanistic ideas, such as the binomial illness/poverty in case of prostitution, which influenced many prominent works of social medicine movement. PMID:22522997

Stones, bones, and heredity.

PubMed

Milliner, Dawn S

2006-07-01

Genetic disorders of mineral metabolism cause urolithiasis, renal disease, and osteodystrophy. Most are rare, such that the full spectrum of clinical expression is difficult to appreciate. Diagnosis is further complicated by overlap of clinical features. Dent's disease and primary hyperoxaluria, inherited causes of calcium urolithiasis, are both associated with nephrocalcinosis and urolithiasis in early childhood and renal failure that can occur at any age but is seen more often in adulthood. Bone disease is an inconsistent feature of each. Dent's disease is caused by mutations of the CLCN-5 gene with impaired kidney-specific CLC-5 chloride channel expression in the proximal tubule, thick ascending limb of Henle, and the collecting ducts. Resulting hypercalciuria and proximal tubule dysfunction, including phosphate wasting, are primarily responsible for the clinical manifestations. Low-molecular-weight proteinuria is characteristic. Definitive diagnosis is made by DNA mutation analysis. Primary hyperoxaluria, type I, is due to mutations of the AGXT gene leading to deficient hepatic alanine-glyoxylate aminotransferase activity. Marked overproduction of oxalate by hepatic cells results in the hyperoxaluria responsible for clinical features. Definitive diagnosis is by liver biopsy with measurement of enzyme activity, with DNA mutation analysis used increasingly as mutations and their frequency are defined. These disorders of calcium urolithiasis illustrate the value of molecular medicine for diagnosis and the promise it provides for innovative and more effective future treatments.

Genetic and environmental contributions to cardiovascular disease risk in American Indians: the strong heart family study.

PubMed

North, Kari E; Howard, Barbara V; Welty, Thomas K; Best, Lyle G; Lee, Elisa T; Yeh, J L; Fabsitz, Richard R; Roman, Mary J; MacCluer, Jean W

2003-02-15

The aims of the Strong Heart Family Study are to clarify the genetic determinants of cardiovascular disease (CVD) risk in American Indians and to map and identify genes for CVD susceptibility. The authors describe the design of the Strong Heart Family Study (conducted between 1998 and 1999) and evaluate the heritabilities of CVD risk factors in American Indians from this study. In the first phase of the study, approximately 950 individuals, aged 18 years or more, in 32 extended families, were examined. The examination consisted of a personal interview, physical examination, laboratory tests, and an ultrasound examination of the carotid arteries. The phenotypes measured during the physical examination included anthropometry, lipoproteins, blood pressure, glycemic status, and clotting factors. Heritabilities for CVD risk factor phenotypes were estimated using a variance component approach and the program SOLAR. After accounting for the effects of covariates, the authors detected significant heritabilities for many CVD risk factor phenotypes (e.g., high density lipoprotein cholesterol (heritability = 0.50) and diastolic blood pressure (heritability = 0.34)). These results suggest that heredity explains a substantial proportion of the variability of CVD risk factors and that these heritabilities are large enough to warrant a search for major risk factor genes.

Evolutionarily diverse determinants of meiotic DNA break and recombination landscapes across the genome

PubMed Central

Fowler, Kyle R.; Sasaki, Mariko; Milman, Neta

2014-01-01

Fission yeast Rec12 (Spo11 homolog) initiates meiotic recombination by forming developmentally programmed DNA double-strand breaks (DSBs). DSB distributions influence patterns of heredity and genome evolution, but the basis of the highly nonrandom choice of Rec12 cleavage sites is poorly understood, largely because available maps are of relatively low resolution and sensitivity. Here, we determined DSBs genome-wide at near-nucleotide resolution by sequencing the oligonucleotides attached to Rec12 following DNA cleavage. The single oligonucleotide size class allowed us to deeply sample all break events. We find strong evidence across the genome for differential DSB repair accounting for crossover invariance (constant cM/kb in spite of DSB hotspots). Surprisingly, about half of all crossovers occur in regions where DSBs occur at low frequency and are widely dispersed in location from cell to cell. These previously undetected, low-level DSBs thus play an outsized and crucial role in meiosis. We further find that the influence of underlying nucleotide sequence and chromosomal architecture differs in multiple ways from that in budding yeast. DSBs are not strongly restricted to nucleosome-depleted regions, as they are in budding yeast, but are nevertheless spatially influenced by chromatin structure. Our analyses demonstrate that evolutionarily fluid factors contribute to crossover initiation and regulation. PMID:25024163

Modelling the influence of parental effects on gene-network evolution.

PubMed

Odorico, Andreas; Rünneburger, Estelle; Le Rouzic, Arnaud

2018-05-01

Understanding the importance of nongenetic heredity in the evolutionary process is a major topic in modern evolutionary biology. We modified a classical gene-network model by allowing parental transmission of gene expression and studied its evolutionary properties through individual-based simulations. We identified ontogenetic time (i.e. the time gene networks have to stabilize before being submitted to natural selection) as a crucial factor in determining the evolutionary impact of this phenotypic inheritance. Indeed, fast-developing organisms display enhanced adaptation and greater robustness to mutations when evolving in presence of nongenetic inheritance (NGI). In contrast, in our model, long development reduces the influence of the inherited state of the gene network. NGI thus had a negligible effect on the evolution of gene networks when the speed at which transcription levels reach equilibrium is not constrained. Nevertheless, simulations show that intergenerational transmission of the gene-network state negatively affects the evolution of robustness to environmental disturbances for either fast- or slow-developing organisms. Therefore, these results suggest that the evolutionary consequences of NGI might not be sought only in the way species respond to selection, but also on the evolution of emergent properties (such as environmental and genetic canalization) in complex genetic architectures. © 2018 European Society For Evolutionary Biology. Journal of Evolutionary Biology © 2018 European Society For Evolutionary Biology.

New Markers for Predicting Fertility of the Male Gametes in the Post Genomic Age.

PubMed

Dipresa, Savina; De Toni, Luca; Foresta, Carlo; Garolla, Andrea

2018-04-18

A number of test have been proposed to assess male fertility potential, ranging from routine testing by light microscopic method for evaluating semen samples, to screening test for DNA integrity aimed to look at sperm chromatin abnormalities. Spermatozoa are an extremely differentiated cell, they have critical functions for embryo development and heredity, in addiction to delivering a haploid paternal genome to the oocyte. Towards this goal certain requirements must always be met. The ability of spermatozoa to perform its reproductive function taking place in the spermatogenesis, a highly specialized process depending on multiple factors with effect on male fertility. In the past 30 years, large-scale analyses of transcriptomic and genome expression in mammals have generated a large amount of informations on numberless biomolecules involved in spermatogenesis and male germ cell reproductive function. Sperm proteome represents the protein content that spermatozoa needs to survive and work correctly and modifications of sperm proteome play a role in determining functional changes leading to a decrease of reproductive competence into affected spermatozoa. The post-genomic approach consists of different methodologies for concurrently testicular transcriptome studies, protein compositional analysis and metabolomics findings of the spermatozoa in humans. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Risk perception is not associated with attendance at a preventive intervention for type 2 diabetes mellitus among South Asians at risk of diabetes.

PubMed

Vlaar, Everlina M A; Nierkens, Vera; Nicolaou, Mary; Middelkoop, Barend J C; Stronks, Karien; van Valkengoed, Irene G M

2015-04-01

To evaluate the association between risk perception and attendance in a diabetes prevention programme among South Asians with a high risk for diabetes. An observational study. We measured risk perception during the baseline interview with causal beliefs, perceived susceptibility and perceived controllability. We used logistic regression to examine the relationship between risk perception and attendance. We adjusted for relevant sociodemographic factors, screening results and psychosocial factors. The Hague, the Netherlands. Five hundred and thirty-five Hindustani Surinamese (South Asians) aged 18-60 years from a lifestyle-versus-control intervention for the prevention of diabetes. In total, 68·2% attended the lifestyle or control intervention. Participants perceived lifestyle and heredity to increase the risk of diabetes and perceived increasing physical activity to decrease it. Only 44·2% of the participants perceived themselves as susceptible to diabetes and only those who perceived a family history of diabetes as a cause of diabetes appeared to be more inclined to attend. However, after adjustment for confounding, the association was not statistically significant. Risk perception was not significantly associated with attendance. The results suggest that increasing the risk perception alone in this South Asian population is unlikely to increase the attendance at a diabetes prevention programme.

Consanguineous Marriage as a Risk Factor for Developing Keratoconus

PubMed Central

JAMALI, Hossein; BEIGI, Vahid; SADEGHI-SARVESTANI, Ali

2018-01-01

Heredity plays an important role in keratoconus (KC). Consanguineous marriage (CM) can affect the transmission of recessively inherited conditions. We aimed to investigate the role of consanguineous marriage in the development of KC. This study included two groups: the first group comprised 415 patients who underwent surgery for KC for the first time at Khalili University Hospital (Shiraz, Iran), between 2010 and 2014; the second group comprised 415 healthy individuals who served as age- and sex-matched controls for the patient group. All study subjects were from the Fars province in Iran. CM type was evaluated by a standard checklist in both groups. The mean inbreeding coefficient (α) was evaluated and compared between the two groups. The percentage of parental first-cousin marriages was 35.4% in the patient group and 18.3% in the control group. The mean inbreeding coefficient (α) was 0.0291 in the patient group and 0.0135 in the control group. Patients with KC had a significantly higher mean inbreeding coefficient (α) than controls (T = 8, df = 828, P < 0.001). Our study suggests that CM can play a role in the pathogenesis of KC. As this disease is among the most frequent ocular disorders in our country, CM should be considered by health care systems within their screening programs. PMID:29644240

A guinea pig strain with recessive heredity of deafness, producing normal-hearing heterozygotes with resistance to noise trauma.

PubMed

Skjönsberg, Asa; Herrlin, Petra; Duan, Maoli; Johnson, Ann-Christin; Ulfendahl, Mats

2005-01-01

A new strain of waltzing guinea pigs arose spontaneously in a guinea pig breeding facility in Germany in 1996. In addition to obvious vestibular dysfunction, the waltzing animals appear deaf already at birth. Histological analysis revealed that the waltzers lack an open scala media due to the collapse of Reissner's membrane onto the surface of the hearing organ. Subsequent breeding has shown that this strain has a recessive mode of inheritance. The homozygotes are deaf and display a waltzing behaviour throughout their lives while the heterozygotes show no significant signs of inner ear injury despite being carriers of this specific mutated gene of hearing impairment. However, the heterozygous animals offer the opportunity to study how hereditary factors interact with auditory stress. In the present study, the susceptibility of the carriers to noise was investigated. Auditory brainstem responses were obtained prior to and after noise exposure (4 kHz, 110 dB, 6 h). The carriers were significantly less affected by the noise as compared to control animals. This difference was still significant at 4 weeks following noise exposure. It is suggested that the heterozygous animals have an endogenous resistance to auditory stress. Copyright (c) 2005 S. Karger AG, Basel.

What's in a Surname? Physique, Aptitude, and Sports Type Comparisons between Tailors and Smiths.

PubMed

Voracek, Martin; Rieder, Stephan; Stieger, Stefan; Swami, Viren

2015-01-01

Combined heredity of surnames and physique, coupled with past marriage patterns and trade-specific physical aptitude and selection factors, may have led to differential assortment of bodily characteristics among present-day men with specific trade-reflecting surnames (Tailor vs. Smith). Two studies reported here were partially consistent with this genetic-social hypothesis, first proposed by Bäumler (1980). Study 1 (N = 224) indicated significantly higher self-rated physical aptitude for prototypically strength-related activities (professions, sports, hobbies) in a random sample of Smiths. The counterpart effect (higher aptitude for dexterity-related activities among Tailors) was directionally correct, but not significant, and Tailor-Smith differences in basic physique variables were nil. Study 2 examined two large total-population-of-interest datasets (Austria/Germany combined, and UK: N = 7001 and 20,532) of men's national high-score lists for track-and-field events requiring different physiques. In both datasets, proportions of Smiths significantly increased from light-stature over medium-stature to heavy-stature sports categories. The predicted counterpart effect (decreasing prevalences of Tailors along these categories) was not supported. Related prior findings, the viability of possible alternative interpretations of the evidence (differential positive selection for trades and occupations, differential endogamy and assortative mating patterns, implicit egotism effects), and directions for further inquiry are discussed in conclusion.

The wild type as concept and in experimental practice: A history of its role in classical genetics and evolutionary theory.

PubMed

Holmes, Tarquin

2017-06-01

Wild types in genetics are specialised strains of laboratory experimental organism which principally serve as standards against which variation is measured. As selectively inbred lineages highly isolated from ancestral wild populations, there appears to be little wild or typical about them. I will nonetheless argue that they have historically been successfully used as stand-ins for nature, allowing knowledge produced in the laboratory to be extrapolated to the natural world. In this paper, I will explore the 19th century origins of the wild type concept, the theoretical and experimental innovations which allowed concepts and organisms to move from wild nature to laboratory domestication c. 1900 (resulting in the production of standardised lab strains), and the conflict among early geneticists between interactionist and atomist accounts of wild type, which would eventually lead to the conceptual disintegration of wild types and the triumph of genocentrism and population genetics. I conclude by discussing how the strategy of using wild type strains to represent nature in the lab has nonetheless survived the downfall of the wild type concept and continues to provide, significant limitations acknowledged, an epistemically productive means of investigating heredity and evolutionary variation. Copyright © 2017 Elsevier Ltd. All rights reserved.

Botanical smuts and hermaphrodites: Lydia Becker, Darwin's botany, and education reform.

PubMed

Gianquitto, Tina

2013-06-01

In 1868, Lydia Becker (1827-1890), the renowned Manchester suffragist, announced in a talk before the British Association for the Advancement of Science that the mind had no sex. A year later, she presented original botanical research at the BAAS, contending that a parasitic fungus forced normally single-sex female flowers of Lychnis diurna to develop stamens and become hermaphroditic. This essay uncovers the complex relationship between Lydia Becker's botanical research and her stance on women's rights by investigating how her interest in evolutionary theory, as well as her correspondence with Charles Darwin, critically informed her reform agendas by providing her with a new vocabulary for advocating for equality. One of the facts that Becker took away from her work on Lychnis was that even supposedly fixed, dichotomous categories such as biological sex became unfocused under the evolutionary lens. The details of evolutionary theory, from specific arguments on structural adaptations to more encompassing theories on heredity (i.e., pangenesis), informed Becker's understanding of human physiology. At the same time, Becker's belief in the fundamental equality of the sexes enabled her to perceive the distinction between inherent, biological differences and culturally contingent ones. She applied biological principles to social constructs as she asked: Do analogous evolutionary forces act on humans?

Using Qualitative Methods to Explore Lay Explanatory Models, Health-Seeking Behaviours and Self-Care Practices of Podoconiosis Patients in North-West Ethiopia.

PubMed

Banks, Harrison S; Tsegay, Girmay; Wubie, Moges; Tamiru, Abreham; Davey, Gail; Cooper, Max

2016-08-01

Podoconiosis (endemic non-filarial elephantiasis) is a chronic, non-infectious disease resulting from exposure of bare feet to red-clay soil in tropical highlands. This study examined lay beliefs about three under-researched aspects of podoconiosis patients' care: explanatory models, health-seeking behaviours and self-care. In-depth interviews and focus group discussions were undertaken with 34 participants (19 male, 15 female) between April-May 2015 at podoconiosis treatment centres across East and West Gojjam regions in north-west Ethiopia. Explanatory models for podoconiosis included contamination from blood, magic, soil or affected individuals. Belief in heredity or divine punishment often delayed clinic attendance. All participants had tried holy water treatment and some, holy soil. Herbal treatments were considered ineffectual, costly and appeared to promote fluid escape. Motivators for clinic attendance were failure of traditional treatments and severe or disabling symptoms. Patients did not report self-treatment with antibiotics. Self-care was hindered by water being unavailable or expensive and patient fatigue. A pluralistic approach to podoconiosis self-treatment was discovered. Holy water is widely valued, though some patients prefer holy soil. Priests and traditional healers could help promote self-care and "signpost" patients to clinics. Change in behaviour and improving water access is key to self-care.

Theoretical models of the influence of genomic architecture on the dynamics of speciation.

PubMed

Flaxman, Samuel M; Wacholder, Aaron C; Feder, Jeffrey L; Nosil, Patrik

2014-08-01

A long-standing problem in evolutionary biology has been determining whether and how gradual, incremental changes at the gene level can account for rapid speciation and bursts of adaptive radiation. Using genome-scale computer simulations, we extend previous theory showing how gradual adaptive change can generate nonlinear population transitions, resulting in the rapid formation of new, reproductively isolated species. We show that these transitions occur via a mechanism rooted in a basic property of biological heredity: the organization of genes in genomes. Genomic organization of genes facilitates two processes: (i) the build-up of statistical associations among large numbers of genes and (ii) the action of divergent selection on persistent combinations of alleles. When a population has accumulated a critical amount of standing, divergently selected variation, the combination of these two processes allows many mutations of small effect to act synergistically and precipitously split one population into two discontinuous, reproductively isolated groups. Periods of allopatry, chromosomal linkage among loci, and large-effect alleles can facilitate this process under some conditions, but are not required for it. Our results complement and extend existing theory on alternative stable states during population divergence, distinct phases of speciation and the rapid emergence of multilocus barriers to gene flow. The results are thus a step towards aligning population genomic theory with modern empirical studies. © 2014 John Wiley & Sons Ltd.

Transcending Darwinism thinking laterally on the tree of life.

PubMed

Sapp, Jan

2009-01-01

The scope and significance of lateral gene transfer (LGT) has been discussed periodically since the early twentieth century. In sketching this history here we see that the pendulum of opinion has swung from one extreme that LGT is a rare phenomenon to the other that it is fundamental to evolution. That phages are sources of bacterial evolutionary innovation has been discussed since the 1920s in association with evidence that symbiosis is a major source of evolutionary innovation. Concepts of infectious heredity re-emerged with the rise of bacterial genetics after the Second World War, but LGT was generally discounted as a significant evolutionary force. LGT received increased attention in the 1960s and 1970s because of its role in antibiotic resistance outbreaks. Some speculated that the new molecular approaches to bacterial phylogenetics were ill-conceived because of LGT. With the rise of genomics in the 1990s, it became clear to phylogeneticists that LGT is the principal mode of generating evolutionary novelty in the prokaryotic world. All microbiologists agree today that the Darwinian concept of a bifurcating tree is an inadequate, if not misleading, representation of the evolutionary process in the microbial world. Phages are also reconceived not only as agents of bacterial gene exchange, but also as organisms in their own right, and fundamental in the evolution of new genes.

Using Qualitative Methods to Explore Lay Explanatory Models, Health-Seeking Behaviours and Self-Care Practices of Podoconiosis Patients in North-West Ethiopia

PubMed Central

Banks, Harrison S.; Tsegay, Girmay; Wubie, Moges; Tamiru, Abreham; Davey, Gail; Cooper, Max

2016-01-01

Background Podoconiosis (endemic non-filarial elephantiasis) is a chronic, non-infectious disease resulting from exposure of bare feet to red-clay soil in tropical highlands. This study examined lay beliefs about three under-researched aspects of podoconiosis patients’ care: explanatory models, health-seeking behaviours and self-care. Methods In-depth interviews and focus group discussions were undertaken with 34 participants (19 male, 15 female) between April-May 2015 at podoconiosis treatment centres across East and West Gojjam regions in north-west Ethiopia. Results Explanatory models for podoconiosis included contamination from blood, magic, soil or affected individuals. Belief in heredity or divine punishment often delayed clinic attendance. All participants had tried holy water treatment and some, holy soil. Herbal treatments were considered ineffectual, costly and appeared to promote fluid escape. Motivators for clinic attendance were failure of traditional treatments and severe or disabling symptoms. Patients did not report self-treatment with antibiotics. Self-care was hindered by water being unavailable or expensive and patient fatigue. Conclusion A pluralistic approach to podoconiosis self-treatment was discovered. Holy water is widely valued, though some patients prefer holy soil. Priests and traditional healers could help promote self-care and “signpost” patients to clinics. Change in behaviour and improving water access is key to self-care. PMID:27536772

Heritability estimates of dental arch parameters in Lithuanian twins.

PubMed

Švalkauskienė, Vilma; Šmigelskas, Kastytis; Šalomskienė, Loreta; Andriuškevičiūtė, Irena; Šalomskienė, Aurelija; Vasiliauskas, Arūnas; Šidlauskas, Antanas

2015-01-01

The genetic influence on dental arch morphology may be country-specific, thus it is reasonable to check the estimates of genetics across different populations. The purpose of this study was to evaluate the heredity of dental arch morphology in the sample of Lithuanian twins with accurate zygosity determination. The study sample consisted of digital dental models of 40 monozygotic (MZ) and 32 dizygotic (DZ) twin pairs. The estimates of heritability (h(2)) for dental arch breadth and length were calculated. All dental arch breadths and lengths were statistically significantly larger in men than in women. Arch length differences between genders were less expressed than largest breadth differences. In the upper jaw the largest genetic effect was found on the arch breadth between lateral incisors. The heritability of dental arch length demonstrated similar differences between upper and lower jaw with mandible dental arch length being more genetically determined. The largest genetic impact was found on the upper dental arch breadth between lateral incisors. Similar, but lower heritability is inherent for canines and first premolars of the upper jaw and first premolars of the lower jaw. It also can be noted, that arch breadths between posterior teeth show lower heritability estimates than between anterior teeth on both jaws. The dental arch in the upper jaw has more expressed genetic component than in the lower jaw.

"The awe in which biologists hold physicists": Frits Went's first phytotron at Caltech, and an experimental definition of the biological environment.

PubMed

Munns, David P D

2014-01-01

After Darwin, experimental biology sought to unravel organisms. By the early twentieth century, organisms were broadly conceived as the product of their heredity and their environment. Much historical work has explored the scientific attack on the genotype, particularly through the new science of genetics. This article explores the tandem efforts to assert experimental control over the environment in which plants grew and developed. The case described here concerns the creation of the first phytotron at Caltech by botanist and plant physiologist Frits Went. Opening in 1949, the phytotron was a plant laboratory that, across a series of rooms and chambers, kept genes constant while regulating and maintaining defined ranges of known environments. This article details the context in which the phytotron emerged, how the phytotron gained its sobriquet, and how it served to cement the "environment" as a category of biological knowledge. Describing the institutional context of Caltech, its interdisciplinary culture, and its encouragement of adopting technology into biological science, I argue that the phytotron and the commensurate category of the "environment", were the product of the familiar movement to integrate the physical and biological sciences. In addition, however, the creation of the phytotron was also a broader story of plant physiologists establishing a definition of the "environment" in both physical and technological terms.

From eugenics to lysenkoism: the evolution of Stanisław Skowron.

PubMed

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.

'Rediscovery' revised - the cooperation of Erich and Armin von Tschermak-Seysenegg in the context of the 'rediscovery' of Mendel's laws in 1899-1901.

PubMed

Simunek, M; Hossfeld, U; Wissemann, V

2011-11-01

The 'rediscovery' of Mendel's laws in 1900 is seen as a turning point in modern research on heredity and genetics. In the first half of the 20th century it was generally held that the 'rediscovery' was made several times, independently, and in a parallel fashion by three European botanists (Carl Correns, Hugo de Vries and Erich von Tschermak-Seysenegg). Since the 1950s, however, serious questions have arisen concerning both the chronology and the specific conceptual contribution of the scientists involved. Not only the independence but also parallelism was analysed in the context of individual research programmes of all three of these scholars. The youngest of them, Austrian botanist Erich von Tschermak-Seysenegg, was excluded from the rank of 'rediscoverers'. It is the aim of this paper to use new archival evidence and add important facts both to the chronology and conceptual framework of Erich von Tschermak-Seysenegg's work. An entirely new aspect is added by identifying his older brother, the physiologist Armin von Tschermak-Seysenegg (1870-1952), as a significant spiritus movens of the events of 1900 and 1901. A selected part of their correspondence, covering the period from 13 March 1898 until 19 November 1901, is made available in transcriptions. © 2011 German Botanical Society and The Royal Botanical Society of the Netherlands.

Eating behavior: lessons from the real world of humans.

PubMed

de Castro, J M

2000-10-01

Food intake by normal humans has been investigated both in the laboratory and under free-living conditions in the natural environment. For measurement of real-world intake, the diet-diary technique is imperfect and tends to underestimate actual intakes but it appears to be sensitive, can detect subtle influences on eating behavior, and produces reliable and valid measures. Research studies in the real world show the multivariate richness of the natural environment, which allows investigation of the complexities of intake regulation, and even causation can be investigated. Real-world research can overcome some of the weaknesses of laboratory studies, where constraints on eating are often removed or missing, facilitatory influences on eating are often controlled or eliminated, the importance of variables can be overestimated, and important influences can be missed because of the short durations of the studies. Real-world studies have shown a wide array of physiologic, psychological, and social variables that can have potent and immediate effects on intake. Compensatory mechanisms, including some that operate with a 2- to 3-d delay, adjust for prior excesses. Heredity affects all aspect of food-intake regulation, from the determination of body size to the subtleties of the individual preferences and social proclivities and the extent to which environmental factors affect the individual. Hence, real-world research teaches valuable lessons, and much more is needed to complement laboratory studies.

Neurogenomics in Africa: Perspectives, progress, possibilities and priorities.

PubMed

Akinyemi, Rufus O; Owolabi, Mayowa O; Oyeniyi, Tolulope; Ovbiagele, Bruce; Arnett, Donna K; Tiwari, Hemant K; Walker, Richard; Ogunniyi, Adesola; Kalaria, Raj N

2016-07-15

The understanding of the genetic basis of neurological disorders has grown rapidly in the last two decades. Despite the genomic heterogeneity within African populations, large-scale candidate gene or linkage and exome studies are lacking. However, current knowledge on neurogenetics in African populations is limited and geographically very uneven. Isolated reports indicate the existence of autosomal dominant or recessive conditions incorporating cerebrovascular, movement, neuromuscular, seizure and motor neuron disorders in Africans. In addition, few African families with neurodegenerative disorders associated with dementia have been characterized in North, West and South Africa. The current insurgency in genomic research triggered by among others the Human Health and Heredity (H3) Africa Initiative indicates that there are unique opportunities to advance our knowledge and understanding of the influence of genomic variation on the pattern, presentations and prognosis of neurological disorders in Africa. These have enormous potential to unmask novel genes and molecular pathways germane to the neurobiology of brain disorders. It would facilitate the development of novel diagnostics, preventative and targeted treatments in the new paradigm of precision medicine. Nevertheless, it is crucial to strike a balance between effective traditional public health strategies and personalized genome based care. The translational barriers can be overcome through robust stakeholder engagement and sustainable multilevel, multigenerational and multidisciplinary capacity building and infrastructural development for genomic medicine in Africa. Copyright © 2016 Elsevier B.V. All rights reserved.

[Epigenetic heredity (deoxyribonucleic acid methylation): Clinical context in neurodegenerative disorders and ATXN2 gene].

PubMed

Laffita-Mesa, José Miguel; Bauer, Peter

2014-10-21

Epigenetics is the group of changes in the phenotype which are related with the process independently of the primary DNA sequence. These changes are intimately related with changes in the gene expression level and its profile across the body. These are mediated by histone tail modifications, DNA methylation, micro-RNAs, with chromatin remodeling remaining as the foundation of epigenetic changes. DNA methylation involves the covalent addition of methyl group to cytosine of the DNA, which is mediated by methyltransferases enzymes. DNA methylation regulates gene expression by repressing transcription, while de-methylation activates gene transcription. Several human diseases are related with the epigenetic process: cancer, Alzheimer disease, stroke, Parkinson disease, and diabetes. We present here the basis of epigenetic inheritance and show the pathogenic mechanisms relating epigenetics in human diseases, specifically with regard to neurodegeneration. We discuss current concepts aimed at understanding the contribution of epigenetics to human neurodegenerative diseases. We also discuss recent findings obtained in our and other centers regarding the ATXN2 gene that causes spinocerebellar ataxia 2 and amyotrophic lateral sclerosis. Epigenetics play a pivotal role in the pathogenesis of human diseases and in several neurodegenerative disorders, and this knowledge will illuminate the pathways in the diagnostic and therapeutic field, which ultimately will be translated into the clinic context of neurodegenerative diseases. Copyright © 2013 Elsevier España, S.L.U. All rights reserved.

Human genetics after the bomb: Archives, clinics, proving grounds and board rooms.

PubMed

Lindee, Susan

2016-02-01

In this paper I track the history of post-1945 human genetics and genomics emphasizing the importance of ideas about risk to the scientific study and medical management of human heredity. Drawing on my own scholarship as it is refracted through important new work by other scholars both junior and senior, I explore how radiation risk and then later disease risk mattered to the development of genetics and genomics, particularly in the United States. In this context I excavate one of the central ironies of post-war human genetics: while studies of DNA as the origin and cause of diseases have been lavishly supported by public institutions and private investment around the world, the day-to-day labor of intensive clinical innovation has played a far more important role in the actual human experience of genetic disease and genetic risk for affected families. This has implications for the archival record, where clinical interactions are less readily accessible to historians. This paper then suggests that modern genomics grew out of radiation risk; that it was and remains a risk assessment science; that it is temporally embedded as a form of both prediction and historical reconstruction; and that it has become a big business focused more on risk and prediction (which can be readily marketed) than on effective clinical intervention. Copyright © 2015 Elsevier Ltd. All rights reserved.

Distinguishing between incomplete lineage sorting and genomic introgressions: complete fixation of allospecific mitochondrial DNA in a sexually reproducing fish (Cobitis; Teleostei), despite clonal reproduction of hybrids.

PubMed

Choleva, Lukas; Musilova, Zuzana; Kohoutova-Sediva, Alena; Paces, Jan; Rab, Petr; Janko, Karel

2014-01-01

Distinguishing between hybrid introgression and incomplete lineage sorting causing incongruence among gene trees in that they exhibit topological differences requires application of statistical approaches that are based on biologically relevant models. Such study is especially challenging in hybrid systems, where usual vectors mediating interspecific gene transfers--hybrids with Mendelian heredity--are absent or unknown. Here we study a complex of hybridizing species, which are known to produce clonal hybrids, to discover how one of the species, Cobitis tanaitica, has achieved a pattern of mito-nuclear mosaic genome over the whole geographic range. We appplied three distinct methods, including the method using solely the information on gene tree topologies, and found that the contrasting mito-nuclear signal might not have resulted from the retention of ancestral polymorphism. Instead, we found two signs of hybridization events related to C. tanaitica; one concerning nuclear gene flow and the other suggested mitochondrial capture. Interestingly, clonal inheritance (gynogenesis) of contemporary hybrids prevents genomic introgressions and non-clonal hybrids are either absent or too rare to be detected among European Cobitis. Our analyses therefore suggest that introgressive hybridizations are rather old episodes, mediated by previously existing hybrids whose inheritance was not entirely clonal. Cobitis complex thus supports the view that the type of resulting hybrids depends on a level of genomic divergence between sexual species.

The new genetics

DOE Office of Scientific and Technical Information (OSTI.GOV)

Jaroff, L.

1991-01-01

Knowing the location and make-up of each of the 50,000 to 100,000 human genes will revolutionize the practice of medicine. This knowledge will lead to tailor-made therapies not only for treating disease but also for preventing it - in short, to a new concept of patient care. The Human Genome Project, a 15-year, $3 billion quest to determine the nucleotide sequence of the entire human genome, will make this possible. In The New Genetics, Leon Jaroff recounts the long path of discovery thatt has led to this huge new scientific venture - from the theory of heredity put forth bymore » Aristotle more than 2,000 years ago to the current attempts to treat adenosine deaminase (ADA) deficiency and malignant melanoma via gene therapy. Against this background, the geneticists, molecular biologists, clinicians, and ethicists involved in the Human Genome Project describe their work and how it will provide physicians with ever more precise and effective tools to treat human disease. Jaroff also reveals the other, more problematic side of the story. Patients with an undesirable genetic profile may be subject to discrimination by private insurers. Physicians who fail to recommend genetic screening may find themselves victims of malpractice or wrongful-life suits. Indeed, these issues and others have already begun to affect physicians. The New Genetics makes it abundantly clear tha a revolution has arrived, and that physicians must be prepared to cope with the new order.« less

Electromagnetic Basis of Metabolism and Heredity

NASA Technical Reports Server (NTRS)

Freund, Friedemann; Stolc, Viktor

2016-01-01

Living organisms control their cellular biological clocks to maintain functional oscillation of the redox cycle, also called the "metabolic cycle" or "respiratory cycle". Organization of cellular processes requires parallel processing on a synchronized time-base. These clocks coordinate the timing of all biochemical processes in the cell, including energy production, DNA replication, and RNA transcription. When this universal time keeping function is perturbed by exogenous induction of reactive oxygen species (ROS), the rate of metabolism changes. This causes oxidative stress, aging and mutations. Therefore, good temporal coordination of the redox cycle not only actively prevents chemical conflict between the reductive and oxidative partial reactions; it also maintains genome integrity and lifespan. Moreover, this universal biochemical rhythm can be disrupted by ROS induction in vivo. This in turn can be achieved by blocking the electron transport chain either endogenously or exogenously by various metabolites, e.g. hydrogen sulfide (H2S), highly diffusible drugs, and carbon monoxide (CO). Alternatively, the electron transport in vivo can be attenuated via a coherent or interfering transfer of energy from exogenous ultralow frequency (ULF) and extremely low frequency (ELF) electromagnetic (EM) fields, suggesting that-on Earth-such ambient fields are an omnipresent (and probably crucially important) factor for the time-setting basis of universal biochemical reactions in living cells. Our work demonstrated previously un-described evidence for quantum effects in biology by electromagnetic coupling below thermal noise at the universal electron transport chain (ETC) in vivo.

Parental effects on the larval performance of a tapeworm in its copepod first host.

PubMed

Benesh, D P

2013-08-01

Parents can influence the phenotype of their offspring through various mechanisms, besides the direct effect of heredity. Such parental effects are little explored in parasitic organisms, perhaps because in many parasites, per capita investment into offspring is low. I investigated whether parental identity, beyond direct genetic effects, could explain variation in the performance of the tapeworm Schistocephalus solidus in its first intermediate host, a copepod. I first determined that two breeding worms could be separated from one another after ~48 h of in vitro incubation and that the isolated worms continued producing outcrossed eggs, that is, rates self-fertilization did not increase after separation. Thus, from a breeding pair, two sets of genetically comparable eggs can be collected that have unambiguous parental identities. In an infection experiment, I found that the development of larval worms tended to vary between the two parental worms within breeding pairs, but infection success and growth rate in copepods did not. Accounting for this parental effect decreased the estimated heritability for development by nearly half. These results suggest that larval performance is not simply a function of a worm's genotype; who mothered or fathered an offspring can also affect offspring fitness, contradicting the perhaps naïve idea that parasites simply produce large quantities of uniformly low-quality offspring. © 2013 The Author. Journal of Evolutionary Biology © 2013 European Society For Evolutionary Biology.

Psychosomatic health impacts of power plants and computer aided risk management

DOE Office of Scientific and Technical Information (OSTI.GOV)

Pop-Jordanova, N.; Pop-Jordanov, J.; Boskovska, V.

1998-07-01

The concept ``psychosomatic'', initially introduced in the first half of this century, has recently being reconfirmed by the theory and practice of modern medicine. The psychosomatic disorders are generally defined as physical (somatic) diseases produced, in part, by psychological factors, primarily stress. The organs of cardiovascular, gastrointestinal, respiratory and endocrine system are being affected, as a result of innervation by the autonomic nervous system. In some of these diseases the psychological factors can play relatively essential role; these are named ``primary psychosomatic diseases'': essential hypertension, peptic ulcer, bronchial asthma, ulcerative colitis, neurodermatitis, rheumatoid arthritis and hyperthyroidism (the last two diseasesmore » were later replaced by eating disorders as bulimia and anorexia nervosa). In many other cases the psychological element is only one among several parallel factors; these are sometimes called ``secondary psychosomatic diseases''. As known from the psychosomatic medicine, the stressors are being refracted through the individual history of a person as through a prism, leading to a spectrum of possible reactions. The personality prism comprises heredity, early child experiences and actual conflict, while the resulting disorders, as a response of the human being, have the form of neuroses, disturbed behavior and psychoses from one side, and psychophysiological disorders and other psychosomatic diseases, including synergetic amplification, from the other side. The probability of each outcome depends primarily on the individual personality prism, as well as on the characteristics of the stressors.« less

[Acute myocardial infarction in Djibouti: 2-year prospective study].

PubMed

Maurin, O; Massoure, P L; de Regloix, S; Topin, F; Sbardella, F; Lamblin, G; Kaiser, E

2012-01-01

Acute myocardial infarction (AMI) is a life-threatening emergency. In Africa, the increasing prevalence of cardiovascular risk factors is leading to an epidemiological transition. No data have yet been reported about AMI in Djibouti. This study prospectively included all patients with acute coronary syndrome and persistent ST segment elevation admitted to the emergency department of Bouffard Military Hospital in Djibouti from January 2009 through December 2010. It analyzed their clinical data and management. The study included 35 patients. Their mean age was 52 ± 11 years [range: 29-76]. The sex ratio was 7.7 (men/women). Cardiovascular risk factors were: hypercholesterolemia (83%), tobacco use (60%), khat chewing (57%), diabetes (49%), hypertension (46%), and heredity (20%). AMI was anterior in 40% of cases. Fifteen patients (43%) arrived within 12 hours after the onset of symptoms (average 5 hours); thrombolysis was successful for 11 of them (73%). Seven patients (20%) died over the entire follow-up (11.3 ± 9 months), 5 within the first month. Mortality was significantly associated with diabetes (p<0.01), initial severe clinical complications (p<0.01) and initial low left ventricular ejection fraction (p<10(-6)). Patients with AMI in Djibouti are 10 to 15 years younger than in Western countries. Their high level of cardiovascular risk is remarkable. Khat use did not significantly affect prognosis. The high mortality rate was similar to rates reported before the percutaneous coronary angioplasty era.

Rural Hispanic populations at risk in developing diabetes: sociocultural and familial challenges in promoting a healthy diet.

PubMed

Heuman, Amy N; Scholl, Juliann C; Wilkinson, Kenton

2013-01-01

Type II diabetes affects Hispanic populations disproportionately and is the fifth leading cause of death for Hispanic people in the United States ( Smith & Barnett, 2005 ). Risk of diabetes is of great concern throughout the United States and is clearly of epidemic proportions for regions such as the Southwest and Texas where the primary minority populations are Mexican American. We conducted four focus groups with a total of 49 Hispanic participants (23 adults and 26 adolescents) from rural West Texas communities to gain insights about participants' eating habits, knowledge of diabetes, and potential barriers to preventive care. From the data, we identified a three-tiered predisposition or vulnerability to diabetes-heredity; preferences for unhealthy, culturally based food; and temptations from U.S. mainstream fast food culture. These vulnerabilities added to the sociocultural concerns that participants identified-importance of parental and familial modeling; challenges to healthy eating based on a culturally based diet and mainstream fast food culture; and a lack of support from the larger sociocultural networks such as teachers, community leaders, and the media. From these data, we have a better understanding of familial and sociocultural factors that need to be addressed in the development of preventive public awareness and educational plans. We outline implications for practitioners and educators from an integrated cultural biomedical approach.

[Prevalence of type 2 diabetes and factors associated in depression].

PubMed

Sebbani, M; Dali Sahi, M; Amine, M; Aouar, A

2014-02-01

The aim of our study was to estimate the prevalence of type 2 diabetes in patients with depression and to describe its associated factors. A cross-sectional descriptive study was conducted over a period of three months (from May to August 2012) in a hospital in Tlemcen, Algeria. The sample study had included 73 consecutive depressed patients who had attended the unit for assessment, education or treatment of depression or its complications. Data collection was conducted using a questionnaire. Blood sampling was performed in all patients to measure glycemic levels. Data analysis was performed using the spss version 10 software. P-value was considered significant when ≤ 0.05. Means age was 53 ± 15 years. Sex-ratio female/male was 1.35. The prevalence of type 2 diabetes was 69.9% with 95% CI [57.9; 79.8]. Heredity and collective lifestyle were significantly associated with diabetes (P<0.0001). We have not found an association of diabetes with the factors studied: gender, presence of remaining associated diseases, smoking, and treatment regime. In the absence of national epidemiological data, the results of our study provide the frequency of type 2 diabetes during depression. This requires planning strategies for diagnosis and appropriate care for this population. Copyright © 2013 L’Encéphale, Paris. Published by Elsevier Masson SAS. All rights reserved.

"Enfant Terrible": Lancelot Hogben's Life and Work in the 1920s.

PubMed

Erlingsson, Steindór J

2016-08-01

Until recently the British zoologist Lancelot Hogben (1895-1975) has usually appeared as a campaigning socialist, an anti-eugenicist or a popularizer of science in the literature. The focus has mainly been on Hogben after he became a professor of social biology at the London School of Economics in 1930. This paper focuses on Hogben's life in the 1920s. Early in the decade, while based in London, he focused on cytology, but in 1922, after moving to Edinburgh, he turned his focus on experimental zoology, first concentrating on vertebrate endocrinology and later moving over to the comparative physiology of invertebrate muscle. In the early 1920s Hogben played an active role in the development of experimental zoology in Britain. As such he was a fearless critic of evolutionary and metaphysical speculations. But in this period Hogben's career prospects were seriously hampered by his confrontational nature and serious depression. As a result he was forced to leave Britain in 1925. He first accepted a position in Canada and in the period 1927-1930 he was a professor of zoology in South Africa. This paper will also add crucial new material to James Tabery's recent discussion of the history behind Hogben's ideas about the interaction of heredity and environment in individual development. In addition a previously unknown Lamarckian controversy will be discussed.

[Resistance risk and resistance stability of Frankliniella occidentalis to imidacloprid, emamectin benzoate, and phoxim].

PubMed

Wang, Sheng-Yin; Yu, Yi; Liu, Yong-Jie; Ma, Jing-Yu

2012-12-01

In order to effectively control the damage of Frankliniella occidentalis (Pergande), Phaseolus vuglaris was dipped with imidacloprid, phoxim, and emamectin benzoate, respectively to select the resistance populations of F. occidentalis from its susceptible population, and the resistance inheritance and resistance risk were analyzed with the resistance reality heredity. After 32, 32, and 24 generations' selection, the F. occidentalis populations obtained 13.8-fold, 29.4-fold and 39.0-fold resistance to imidacloprid, phoxim, and emamectin benzoate, respectively. The resistance reality heritability to imidacloprid, phoxim, and emamectin benzoate was 0.112, 0.166, and 0.259, respectively. The resistance development rate to emamectin benzoate was the fastest, followed by to phoxim, and to imidacloprid. The higher the resistance levels of the selected populations, the lower the differences between the larva and adult susceptibility to imidacloprid, phoxim, and emamectin benzoate. Stopping selection for 12 continuous generations, the resistance level of the selected resistance populations to imidacloprid, phoxim, and emamectin benzoate had definite decline, but it was difficult to regain the original susceptibility. F. occidentalis had a greater potential to gain high level resistance to imidacloprid, phoxim, and emamectin benzoate. Compared with the resistance of F. occidentalis to phoxim and emamectin benzoate, the resistance to imidacloprid increased slower and decreased faster, and thus, imidacloprid was more appropriate to control F. occidentalis in practice.

Childhood abuse, family history and stressors in older patients with bipolar disorder in relation to age at onset.

PubMed

Thesing, C S; Stek, M L; van Grootheest, D S; van de Ven, P M; Beekman, A T; Kupka, R W; Comijs, H C; Dols, A

2015-09-15

The aim of this study is to explore the family history of psychiatric disorders, childhood abuse, and stressors in older patients with Bipolar Disorder (BD) and the association of these variables with the age at onset of BD. The Questionnaire for Bipolar Disorder (QBP) and the Mini International Neuropsychiatric Interview (MINI-Plus) were obtained from 78 patients aged 60 and over to determine diagnosis, age at onset of the first affective episode, childhood abuse, family history of psychiatric disorders and past and recent stressful life events. Increased family history of psychiatric disorders was the only factor associated with an earlier age at onset of BD. Less family history of psychiatric disorders and more negative stressors were significantly associated with a later age at onset of the first (hypo)manic episode. Age at onset, history of childhood abuse, and past stressful life events were assessed retrospectively. Family members of BD patients were not interviewed. Our findings suggest that age at onset can define distinct BD phenotypes. More specifically there was a stronger heredity of BD and other psychiatric disorders in patients with an early age of onset of BD. Negative stressors may play a specific role in patients with a late age at onset of a first (hypo)manic episode. Copyright © 2015 Elsevier B.V. All rights reserved.

Addressing the Global Burden of Chronic Kidney Disease Through Clinical and Translational Research

PubMed Central

Ojo, Akinlolu

2014-01-01

Worldwide, an estimated 200 million people have chronic kidney disease (CKD). In the United States, African Americans (AAs) have a four-fold excess risk of CKD compared to non-Hispanic white people and globally, people in the low-to-middle income countries of Asia and Sub-Saharan Africa have the highest rates of CKD. Annually, more than 500,000 individuals develop end-stage renal disease (or CKD stage 5) in Sub-Saharan Africa alone and the vast majority of these patients suffer premature mortality. The health care costs and economic burden of CKD are huge and not sustainable even in advanced Western countries. A recent discovery on the role of Apolipoprotein 1 (APOL1) G1 and G2 renal risk variants in AAs has a huge potential to unravel the etiology of CKD in both AA and other black populations. Under the National Institutes of Health (NIH)−sponsored Human Heredity and Health in Africa (H3Africa) initiative, a large prospective genetic study of CKD is being conducted in 8000 participants in four African countries (Ethiopia, Ghana, Kenya, and Nigeria; for a total population of 320 million). This and other basic research studies in the United States could potentially shed great insight into the genetics and biologic mechanisms involved in the excess predilection of Africans and AAs to CKD. PMID:25125737

"An evil heritage": interview study of pain and autosomal dominant polycystic kidney disease.

PubMed

Heiwe, Susanne; Bjuke, Monica

2009-09-01

Pain is a common problem for patients with autosomal dominant polycystic kidney disease (ADPKD). Knowledge about patients' experience of the pain, pain management, and pain's effect on everyday life is, however, limited. In clinical practice there is a need to improve the care of these patients. To be able to do so, information about how the disease and its pain affect the patients is required. This study explores patients' experience of living with ADPKD and its pain. The findings are based on in-depth semistructured interviews. The participants were 22 patients with ADPKD. The data were transcribed and analyzed by using phenomenology. Findings showed that the patients experienced limitations in their everyday life due to inexplicable and unpredictable pain and fatigue. Also, pain management was experienced as suboptimal and pain was seldom discussed at health care appointments. Emotional distress concerning the hereditary nature of the disease was also present. Health care providers need to increase their focus on pain and pain management to reduce the disease's intrusion in patients' everyday life. Also, patients and people in the patients' immediate surroundings need to be given information and education about the disease and its pain as well as the opportunity to talk about their worries concerning heredity. By implementing the findings of the present study when meeting a patient with ADPKD, improved patient satisfaction and health-related quality of life could be accomplished.

Ernst Rüdin’s Unpublished 1922-1925 Study “Inheritance of Manic-Depressive Insanity”: Genetic Research Findings Subordinated to Eugenic Ideology

PubMed Central

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

Diagnostic survey at Yamanashi School for Blind: importance of heredity.

PubMed

Tsukahara, S; Sasamoto, M; Watanabe, I; Phillips, C I

1985-01-01

The commonest cause of blindness among the 67 patients at the Yamanashi School for the Blind was congenital cataract (16). Next was retinitis pigmentosa or choroido-retinal degeneration (8), then retinopathy of prematurity (7). Congenital glaucoma and brain tumor each contributed five. Four were due to microphthalmia/micro-cornea and five to high myopia. Direct ocular trauma caused three. Two each were attributable to complete albinism, aniridia, congenital nystagmus and bilateral retinoblastoma. Single cases each of anophthalmos, Behçet's disease, Hallerman-Streiff syndrome, hydrocephalus, macular degeneration and optic atrophy were recorded. 41.8% of all cases were "very probably" hereditary and a further 10.4% "probably" so. 12.2% of the hereditary cases had consanguineous parents. An autosomal recessive (AR) cause is the likeliest explanation for the majority of the nonenvironmental causes (42.9% very probably AR and 14.3% probably AR), so that the possibility of prevention by genetic counseling was limited, but should have been given as soon as the first affected child was born. Parental consanguinity supports an autosomal recessive cause. 10.2% are very definitely due to an autosomal dominant gene; in them, counseling may well also have had a limited effect but might have prevented the birth of one or both of the siblings with aniridia inherited from the mother, and at least two, if not all three, of the three siblings with congenital cataract also inherited from the mother.

Genetic determination of adiponectin and its relationship with body fat topography in multigenerational families of African heritage.

PubMed

Miljkovic-Gacic, Iva; Wang, Xiaojing; Kammerer, Candace M; Bunker, Clareann H; Wheeler, Victor W; Patrick, Alan L; Kuller, Lewis H; Evans, Rhobert W; Zmuda, Joseph M

2007-02-01

Adiponectin, an adipose-specific protein, is negatively associated with adiposity, insulin sensitivity, and diabetes. Very few studies have examined the role of heredity in the regulation of adiponectin and its association with body fat among individuals of African heritage. Thus, we measured fasting serum adiponectin levels by radioimmunoassay and body composition by dual-energy x-ray absorptiometry (DEXA) in 402 individuals aged 18 to 103 years belonging to 7 multigenerational families of African heritage in the relatively homogeneous island population of Tobago. Heritability of adiponectin was 33.2% (P < .01), and age, sex, and body mass index explained 23.4% of the variance in adiponectin. Sex-specific heritability was significant in men (heritability, 34%; P < .05), but not in women. The inverse associations between body mass index and percentage of body fat and adiponectin, independent of age and height, were much stronger in women (all P values <.001) than in men. However, percentage of trunk fat was consistently strongly associated with adiponectin in both men (r = -0.40, P < .001) and women (r = -0.44, P < .001), independent of age and height. This study suggests that genetic factors are a significant source of interindividual differences in circulating adiponectin among Afro-Caribbeans. Adiponectin may serve as a promising quantitative intermediate trait in studies designed to map the genes underlying diabetes and obesity in this population.

[AN ENTRY FOR A "DICTIONARY OF GENETICS" GENERATION AND ASPECTS OF HEREDITY FROM THE PRESOCRATICS TO GALEN: THE MAIN NOTIONS AND THE TECHNICAL TERMINOLOGY].

PubMed

Giorgianni, Franco; Provenza, Antonietta

2015-01-01

This article aims at dealing with the historical development and the terminology of the notion of generation in ancient Greece, taking as well into consideration several aspects of the notion of heredity, for, at present, research in this field lacks a consistent encyclopedic entry on such subjects. The Presocratic - mainly Empedoclean - notions of 'mixing' and 'separation' lurk behind the Hippocratic treatise De genitura/De natura pueri, in which the process of generation is explained through the 'mixing' mechanism of a female semen and a male one. Semen comes from each part of both parents, so it is sound from the sound parts, and unhealthy from the unhealthy parts. It is considered as the "foam of blood" (Diogenes, A 24 DK), gathering itself into a web of blood vessels that bring it to the genital organs. The mixed semen keeps on fixing itself in the womb thanks to pneuma ('breath'), until the embryo takes human shape. Generation is influenced by both the environment (Airs, Waters, Places) and dietetics (On Regimen, I). Male and female are on different levels in CH, since the former is characterized as hot and strong, and the latter is considered as cold and weak; as a consequence of this, the articulation takes longer in the case of a female embryo. On the other hand, the pangenesis and the preformism theory claim for a strong mutual relationship. Sex determination depends from the 'prevalence' of the male or female semen. The generation of twins of different sex depends from such 'prevalence', as well as from the conformation of the womb and its places (right/male, left/female). Both nature (physis) and use (nomos) have a role in the mechanism of inheritance, as the case of the Macrocephalians in Airs Waters Places shows. On the other hand, Plato's Timaeus exemplifies the theory according to which semen derives from the spinal marrow. The structures of the body - bones, flesh, nerves - aim at protecting marrow itself for the sake of maintaining the continuity of the process of generation. For Aristotle, the female provides a specific contribution to generation, that is menstrual blood, the 'material' that will be fashioned into shape by the 'principle of movement' provided in the male semen. Menstrual blood and semen share the same nature, for they are both the ultimate secretion of nutriment, that is the residue of concocted blood. Considering the female as colder that the male, Aristotle develops the concept of the female as privation in relation to the male. The notion of 'prevalence' in its turn provides explanation for similarities between parents and children. The theory of a double semen originating itself in blood comes back again in Galen's treatise On semen, which links together the Hippocratic notion of a bi-sexual semen and the Aristotelian one of a specific female contribution, the menstrual blood, that provides nutrition for the embryo. Furthermore, similarities between sons and mothers are considered in Definitiones medicae as the main proof of the existence of a female semen. Actually the Alexandrian physicians - Herophilus for instance - considered the female sexual organs anatomy as perfectly corresponding to the male one. As a consequence of the synthesis between the Hippocratic and the Aristotelian tradition, Galen's embryological doctrines were very long-lasting in medical thought.

Evolutionary constraints or opportunities?

PubMed

Sharov, Alexei A

2014-09-01

Natural selection is traditionally viewed as a leading factor of evolution, whereas variation is assumed to be random and non-directional. Any order in variation is attributed to epigenetic or developmental constraints that can hinder the action of natural selection. In contrast I consider the positive role of epigenetic mechanisms in evolution because they provide organisms with opportunities for rapid adaptive change. Because the term "constraint" has negative connotations, I use the term "regulated variation" to emphasize the adaptive nature of phenotypic variation, which helps populations and species to survive and evolve in changing environments. The capacity to produce regulated variation is a phenotypic property, which is not described in the genome. Instead, the genome acts as a switchboard, where mostly random mutations switch "on" or "off" preexisting functional capacities of organism components. Thus, there are two channels of heredity: informational (genomic) and structure-functional (phenotypic). Functional capacities of organisms most likely emerged in a chain of modifications and combinations of more simple ancestral functions. The role of DNA has been to keep records of these changes (without describing the result) so that they can be reproduced in the following generations. Evolutionary opportunities include adjustments of individual functions, multitasking, connection between various components of an organism, and interaction between organisms. The adaptive nature of regulated variation can be explained by the differential success of lineages in macro-evolution. Lineages with more advantageous patterns of regulated variation are likely to produce more species and secure more resources (i.e., long-term lineage selection). Published by Elsevier Ireland Ltd.

The role of diclofenack on inducing of aplasia cutis congenita: a case report.

PubMed

Pajaziti, Laura; Rexhepi, Syzana; Shatri-Muça, Ylfete; Ferizi, Mybera

2009-10-12

Aplasia cutis congenita is a disorder where e newborn child is missing skin from certain areas. It is a rare condition with no particular race or sex more at risk. May occur by itself or be associated with other physical syndromes or disorders. A classification system exists for aplasia cutis congenital consisting of 9 groups, based on the number and location of the skin defects and the presence or absence of other malformations. Causes of aplasia congenital could be heredity, teratogenic substances, placental infarcts, intrauterine infections, ectodermal dysplasias etc. Diagnosis is made based on the clinical findings. Prognosis depends of the other organs malfunction level and lesions size. Our case was an 22 months old Albanian girl, who was recommended to dermatology for a consultation by a pediatric surgeon because of the changes she had on her parietal part of the scalp with missing hair areas. The child has stenosis congenita ani and to her was installed stoma. In order to investigate other accompanied anomalies of the disease, there are made specific consults by neurologist, orthopedist, cardiologist, nephrologists and citogenetics. It was found out a minor visual discoordination, Sy Floppy, Digiti V superductus pedis bill. Laxitas articularum generalisata. It was a great challenge for us to find out that during the first trimester of the pregnancy (unplanned pregnancy), her mother used Diclofenac. Since there is limited information regarding to teratogenic effects of diclofenac, we considered it interesting to present this case.

The role of diclofenack on inducing of aplasia cutis congenita: a case report

PubMed Central

2009-01-01

Background Aplasia cutis congenita is a disorder where e newborn child is missing skin from certain areas. It is a rare condition with no particular race or sex more at risk. May occur by itself or be associated with other physical syndromes or disorders. A classification system exists for aplasia cutis congenital consisting of 9 groups, based on the number and location of the skin defects and the presence or absence of other malformations. Causes of aplasia congenital could be heredity, teratogenic substances, placental infarcts, intrauterine infections, ectodermal dysplasias etc. Diagnosis is made based on the clinical findings. Prognosis depends of the other organs malfunction level and lesions size. Case report Our case was an 22 months old Albanian girl, who was recommended to dermatology for a consultation by a pediatric surgeon because of the changes she had on her parietal part of the scalp with missing hair areas. The child has stenosis congenita ani and to her was installed stoma. In order to investigate other accompanied anomalies of the disease, there are made specific consults by neurologist, orthopedist, cardiologist, nephrologists and citogenetics. Conclusion It was found out a minor visual discoordination, Sy Floppy, Digiti V superductus pedis bill. Laxitas articularum generalisata. It was a great challenge for us to find out that during the first trimester of the pregnancy (unplanned pregnancy), her mother used Diclofenac. Since there is limited information regarding to teratogenic effects of diclofenac, we considered it interesting to present this case. PMID:19946521

Selectionist and Evolutionary Approaches to Brain Function: A Critical Appraisal

PubMed Central

Fernando, Chrisantha; Szathmáry, Eörs; Husbands, Phil

2012-01-01

We consider approaches to brain dynamics and function that have been claimed to be Darwinian. These include Edelman’s theory of neuronal group selection, Changeux’s theory of synaptic selection and selective stabilization of pre-representations, Seung’s Darwinian synapse, Loewenstein’s synaptic melioration, Adam’s selfish synapse, and Calvin’s replicating activity patterns. Except for the last two, the proposed mechanisms are selectionist but not truly Darwinian, because no replicators with information transfer to copies and hereditary variation can be identified in them. All of them fit, however, a generalized selectionist framework conforming to the picture of Price’s covariance formulation, which deliberately was not specific even to selection in biology, and therefore does not imply an algorithmic picture of biological evolution. Bayesian models and reinforcement learning are formally in agreement with selection dynamics. A classification of search algorithms is shown to include Darwinian replicators (evolutionary units with multiplication, heredity, and variability) as the most powerful mechanism for search in a sparsely occupied search space. Examples are given of cases where parallel competitive search with information transfer among the units is more efficient than search without information transfer between units. Finally, we review our recent attempts to construct and analyze simple models of true Darwinian evolutionary units in the brain in terms of connectivity and activity copying of neuronal groups. Although none of the proposed neuronal replicators include miraculous mechanisms, their identification remains a challenge but also a great promise. PMID:22557963

Translational Genomics in Low and Middle Income Countries: Opportunities and Challenges

PubMed Central

Tekola-Ayele, Fasil; Rotimi, Charles N.

2015-01-01

Translation of genomic discoveries into patient care is slowly becoming a reality in developed economies around the world. In contrast, low and middle income countries (LMIC) have participated minimally in genomic research for several reasons including lack of coherent national policies, limited number of well-trained genomic scientists, poor research infrastructure, and local economic and cultural challenges. Recent initiatives such as the Human Heredity and Health in Africa (H3Africa), the Qatar Genome Project and the Mexico National Institute of Genomic Medicine (INMEGEN) that aim to address these problems through capacity building and empowerment of local researchers have sparked a paradigm shift. In this short communication, we describe experiences of small-scale medical genetics and translational genomics research programs in LMIC. The lessons drawn from these programs drive home the importance of addressing resource, policy, and socio-cultural dynamics to realize the promise of precision medicine driven by genomic science globally. By echoing lessons from a bench-to-community translational genomics research, we advocate that large-scale genomics research projects can be successfully linked with health care programs. To harness the benefits of genomics-led health care, LMIC governments should begin to develop national genomics policies that will address human and technology capacity development within the context of their national economic and socio-cultural uniqueness. These policies should encourage international collaboration and promote link between the public health program and genomics researchers. Finally, we highlight the potential catalytic roles of the global community to foster translational genomics in LMIC. PMID:26138992

Knowledge, beliefs, and perceptions of Turkish vitiligo patients regarding their condition*

PubMed Central

Topal, Ilteris Oguz; Duman, Hatice; Goncu, Ozgur Emek Kocaturk; Durmuscan, Mustafa; Gungor, Sule; Ulkumen, Pelin Kuteyla

2016-01-01

BACKGROUND Vitiligo is an acquired pigmentary skin disorder that affects 0.5% to 2.0% of the population. OBJECTIVE Patients' knowledge, opinions, and attitudes about vitiligo were evaluated. METHODS The team conducted a cross-sectional, descriptive, prospective study between June 2014 and May 2015. The study included 100 patients aged over 12 years who were diagnosed with vitiligo. A questionnaire including items on knowledge, opinions, and beliefs about vitiligo and the Illness Perception Questionnaire (IPQ) were filled out by the patients, and the results were analyzed. RESULTS In total, 100 (58 female, 42 male) patients were included in the study. Of them, 74% knew the name of their disease, 90% thought that vitiligo was not contagious, 48% reported that they obtained information on the disease from a doctor, and 69% believed they had adequate information on vitiligo. Eighty percent reported no negative effects from vitiligo on relationships with friends or family. It was believed that stress, excessive sun exposure, and heredity were causes of vitiligo, according to 84%, 37%, and 22% of the patients, respectively. Thirty-six patients (36%) believed that their illness was a serious disease and 35% deemed that it did not have a major impact on their lives. CONCLUSIONS Our results show that vitiligo patients were generally highly aware of their condition. The disease did not negatively affect patient opinions or attitudes about vitiligo. The authors believe that improving patient-physician communication will impact positively on the course of the disease. PMID:28099599

SLC2A9 and ZNF518B polymorphisms correlate with gout-related metabolic indices in Chinese Tibetan populations.

PubMed

Zhang, X Y; Geng, T T; Liu, L J; Yuan, D Y; Feng, T; Kang, L L; Jin, T B; Chen, C

2015-08-19

Current evidence suggests that heredity and metabolic syndrome contribute to gout progression. SLC2A9 and ZNF518B may play a role in gout progression in different populations, but no studies have focused on the Tibetan Chinese population. In this study, we determined whether variations in these 2 genes were correlated with gout-related indices in Chinese-Tibetan gout patients. We detected 6 single nucleotide polymorphisms in SLC2A9 and ZNF518B in 319 Chinese Tibetan gout patients. One-way analysis of variance was used to evaluate the polymorphisms' effects on gout based on mean serum levels of metabolism indicators. Polymorphisms in SLC2A9 and ZNF518B affected multiple risk factors related to gout development. Significant differences in serum triglyceride levels and high-density lipoprotein-cholesterol level were detected between different genotypic groups with SLC2A9 polymorphisms rs13129697 (P = 0.022), rs4447863 (P = 0.018), and rs1014290 (P = 0.045). Similarly in ZNF518B, rs3217 (P = 0.016) and rs10016022 (P = 0.046) were associated with high creatinine and glucose levels, respectively. This study is the first to investigate and identify positive correlations between SLC2A9 and ZNF518B gene polymorphisms and metabolic indices in Tibetan gout patients. We found significant evidence indicating that genetic polymorphisms affect gout-related factors in Chinese Tibetan populations.

Familial cancer history in patients with carcinoma of the cervix uteri.

PubMed

Horn, Lars-Christian; Raptis, Georgios; Fischer, Uta

2002-02-10

Several cancers show the tendency to aggregate in families. But the contribution of heredity to the causation of sporadic malignancies, like cervical cancer is unclear. Seven hundred and thirty-seven women with operative treated cervical cancer (CX) were searched for familiar history of malignant tumours. Positive familial history was stated, if one first degree relative was affected by malignant tumour. The site of malignant tumour was stated and the mean age was compared. Twenty-two percent of the women had malignancies at different sites in first degree relatives. In about one-half the mother, in 30% the father and in 11% more than one first degree relative was affected. Overall, first degree relatives of 21 patients (13%) had malignancies of the lungs or the oro-pharynx. Thirty-seven women had malignant tumours of the lower genital tract and 11 had invasive cervical cancer. Mean age of patients with positive familial history was the same as those without (43 versus 42 years) it. But, women whose first degree female relatives had cervical cancer were significantly younger than those with extragenital malignancies (37 versus 45 years). The mean 5-year survival rate was higher in patients with a positive familial cancer history (85.6% versus 74.6%; P=1.7). The data suggest, that a small number of patients have a familial susceptibility for cervical cancer and probably for HPV-associated neoplasms. Further studies establishing the immune status and the search for genetic polymorphisms of these patients are required.

[Risk factors of the development of allergic diseases in children at the junction of XX-XXI centuries].

PubMed

Metreveli, M V; Teliia, A Z; Saakadze, V P

2006-02-01

Analysis of the scientific achievements of Allergology, Immunology, Genetics and Profpathology as well as scientific investigation the authors set categories of causes, characteristics and promoting factors, that cause progressive increase of allergic diseases and atopy in children. Allergic heredity plays significant role in the incidence of allergic diseases among children. The focus is made on development of toxicosis during the pregnancy, frequency of abortions, smoking and treatment with drugs during pregnancy and lactation, excessive consumption of cow milk during lactation. Numerous evidences confirm the negative role of high environmental pollution that is observed during the last decade in the increase of allergoses. Besides, it is worth mentioning that food and plant allergens greatly contribute in the development of allergens in children. Special attention should be paid to the parents' professional activities in antenatal period of the fetus development, particularly, to their professional contacts with the industrial allergens. Three constitutional types of children are discussed, based on them it is possible to make projections about development of different types of allergoses in children. The role of different chemical. biological and physical air pollutants is indicated in setting allergic status in children. Conclusions made on the basis of the analysis of the existing information will help researchers and practicing physicians to prevent development allergic pathologies in children in antenatal period and later progressive of manifested disease by means of purposive, effective preventive measures and treatment complexes.

Irritable Bowel Syndrome and Migraine: Bystanders or Partners?

PubMed Central

Lu, Ching-Liang

2013-01-01

Irritable bowel syndrome (IBS) and migraine are distinct clinical disorders. Apart from the characteristics of chronic and recurrent pain in nature, these pain-related disorders apparently share many similarities. For example, IBS is female predominant with community prevalence about 5-10%, whereas that of migraine is 1-3% also showing female predominance. They are often associated with many somatic and psychiatric comorbidities in terms of fibromyaglia, chronic fatigue syndrome, interstitial cystitis, insomnia and depression etc., even the IBS subjects may have coexisted migraine with an estimated odds ratio of 2.66. They similarly reduce the quality of life of victims leading to the social, medical and economic burdens. Their pathogeneses have been somewhat addressed in relation to biopsychosocial dysfunction, heredity, genetic polymorphism, central/visceral hypersensitivity, somatic/cutaneous allodynia, neurolimbic pain network, gonadal hormones and abuses etc. Both disorders are diagnosed according to the symptomatically based criteria. Multidisciplinary managements such as receptor target new drugs, melantonin, antispasmodics, and psychological drugs and measures, complementary and alternatives etc. are recommended to treat them although the used agents may not be necessarily the same. Finally, the prognosis of IBS is pretty good, whereas that of migraine is less fair since suicide attempt and stroke are at risk. In conclusion, both distinct chronic pain disorders to share many similarities among various aspects probably suggest that they may locate within the same spectrum of a pain-centered disorder such as central sensitization syndromes. The true pathogenesis to involve these disorders remains to be clarified in the future. PMID:23875096

DOE Office of Scientific and Technical Information (OSTI.GOV)

Lapidus, Alla L.

From the date its role in heredity was discovered, DNA has been generating interest among scientists from different fields of knowledge: physicists have studied the three dimensional structure of the DNA molecule, biologists tried to decode the secrets of life hidden within these long molecules, and technologists invent and improve methods of DNA analysis. The analysis of the nucleotide sequence of DNA occupies a special place among the methods developed. Thanks to the variety of sequencing technologies available, the process of decoding the sequence of genomic DNA (or whole genome sequencing) has become robust and inexpensive. Meanwhile the assembly ofmore » whole genome sequences remains a challenging task. In addition to the need to assemble millions of DNA fragments of different length (from 35 bp (Solexa) to 800 bp (Sanger)), great interest in analysis of microbial communities (metagenomes) of different complexities raises new problems and pushes some new requirements for sequence assembly tools to the forefront. The genome assembly process can be divided into two steps: draft assembly and assembly improvement (finishing). Despite the fact that automatically performed assembly (or draft assembly) is capable of covering up to 98% of the genome, in most cases, it still contains incorrectly assembled reads. The error rate of the consensus sequence produced at this stage is about 1/2000 bp. A finished genome represents the genome assembly of much higher accuracy (with no gaps or incorrectly assembled areas) and quality ({approx}1 error/10,000 bp), validated through a number of computer and laboratory experiments.« less

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

PubMed

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.

Beliefs about causation of schizophrenia: do Indian families believe in supernatural causes?

PubMed

Srinivasan, T N; Thara, R

2001-03-01

Beliefs about the causation of schizophrenia could influence the attitudes patients' families adopt towards the patient and may also influence their help-seeking behaviour. Indian families have been typically described as often believing in causes like supernatural forces and therefore seeking help from magico-religious healers. In the changing mental health scenario in India, this impression needs verification. Key relatives living with 254 chronic schizophrenia patients were interviewed and asked to name the causes they believed were behind the illness. A list of possible causes was provided for the families to select from, and relatives were also encouraged to mention other possible causes, not featured in the list. The possible causes identified and the factors related to attributions made were analysed. A supernatural cause was named by only 12% of the families and as the only cause by 5%. Psychosocial stress was most commonly cited cause, followed by personality defect and heredity. A small number of families (14%) could not name any cause and 39% named more than one cause. Patient gender and education, duration of illness and the key relative's education and the nature of relationship were related to the type of causal attributions made. Families living with patients suffering chronic schizophrenia receiving treatment in urban India rarely subscribe to the idea of supernatural causation of the illness. The causal attributions made by them are fairly rational and understandable, given the relative lack of exposure to proper information about the illness.

R-LOCUS DELETERIOUS FACTORS IN MORMONIELLA

DOE Office of Scientific and Technical Information (OSTI.GOV)

Whiting, P.W.

1962-01-01

New data are presented on 37 R-locus mutant genes containing deleterious factors or crossover suppressors. Twenty-seven of these genes are among the 206 recognizable eye-color mutants previously found by others in experiments in which wild-type males were irradiated and mated, siring 11062 daughters examined, mutation rate 1.86%. With the addition of eight mutants from later simdlar tests there were 38 mutants failing to breed, probably being dominant steriles, and seven immature, probably dominant lethals. Of the l60 mutants given successful breeding test, 80 were normal and 80 contained delcterious factors of different types - lethals, near-steriles, femalesteriles, and male-stertles. Ratemore » of deleterious factor productdon differs according to the factor mutating to produce the eye-color marker. Among the l07 genes changed in factor S alone, 68 were also deleterious (63.6%) but for the 45 in O, there were only nine (20.0%), suggesting a more sensitive region near S. More than one deleterious factor may be produced simultaneously with an eye-color change and one defeet may mask others. The gene which forms a temporary unit of segregation in heterozygotes is of a higher order of magnitude than units of heredity (gene elements, cistrons) which may be permanently present dn the germ plasm. Because of the high mutation rate to the marker eye colors scarlet and oyster white, the genetical structure of the R region may be easily studied. (auth)« less

The Obesogenic Potency of Various High-Caloric Diet Compositions in Male Rats, and Their Effects on Expression of Liver and Kidney Proteins Involved in Drug Elimination.

PubMed

Abdussalam, Ali; Elshenawy, Osama H; Bin Jardan, Yousef A; El-Kadi, Ayman O S; Brocks, Dion R

2017-06-01

Obesity is caused by a number of factors including heredity, lack of exercise, and poor diet. Diets rich in fats and carbohydrates are the common culprits leading to obesity. Here we studied the effects of these components on proteins involved in drug disposition. Male rats were given a normal diet (lean controls) or one rich in fats, carbohydrates (as high-fructose corn syrup equivalent) or in combination. After 14 weeks, plasma biochemistry, liver and kidney mRNA and protein for selected cytochrome P450 (CYP) and transporters were determined. Significant increases in body and perinephric fat weight were noted in each of the high-calorie diet-fed groups, with increases being higher in those given high-fat diets. Increases in the protein of CYP3A1/2 and CYP2C11 were seen in liver in high-fat-fed rats. No changes were seen for CYP1A1 at the level of mRNA or protein. For transporters, decreases in expressions of Oct1/2 and Mate1 were seen, with no change in Mdr1. The results showed similarity to earlier assessments of genetically prone rats and suggested that diet-induced obesity has the potential to lead to decreases in the clearance of drugs acting as substrates for CYP 3A, 2C11, and organic cation transport. Copyright © 2017 American Pharmacists Association®. Published by Elsevier Inc. All rights reserved.

[From the seduction theory to the oedipus complex].

PubMed

Alvarez Lince, Bernardo

2005-01-01

The author reviews the Freudian theory of seduction as it was presented in the last decade of the XIX century. Freud began to talk about the effects of the seduction in the clinical history of Katherine, (Studies on Hysteria, 1893 - 1895). In 1896 in Heredity and the Aetiology of the Neuroses, Freud considered the seduction as the specific cause of the psychoneurosis, and latter in The Aetiology of Hysteria, he separated himself from Breuer and Charcot. In Further Remarks on The Neuro - Psychoses of Defense, Freud relates seduction with repression. The author thinks that his father death makes him doubt this theory. These oscillations went hand in hand with his auto-analysis, as it is related in the letters of October 3 and 15, 1897. In these letters the love to the mother and the jealousy to the father are introduced as key features. Nevertheless, the theory of seduction comes back recurrently in the works of Freud, and as late as 1906, in My Views on the Part Played by Sexuality in the Aetiology of the Neurose, he seems to down play the importance as a aetiology feature, considering that the hysterical patient falsified his memories and replaced them with fantasies. Towards the end of his life, in An Outline of Psycho - Analysis, Freud stated that the cares of the mother makes her in the first seducer of the child. According to Etchegoyen (2003), Freud never abandoned the theory of seduction.

The Silver locus product Pmel17/gp100/Silv/ME20: controversial in name and in function

PubMed Central

Theos, Alexander C.; Truschel, Steven T.; Raposo, Graça; Marks, Michael S.

2009-01-01

Summary Mouse coat color mutants have led to the identification of more than 120 genes that encode proteins involved in all aspects of pigmentation, from the regulation of melanocyte development and differentiation to the transcriptional activation of pigment genes, from the enzymatic formation of pigment to the control of melanosome biogenesis and movement [Bennett and Lamoreux (2003) Pigment Cell Res. 16, 333]. One of the more perplexing of the identified mouse pigment genes is encoded at the Silver locus, first identified by Dunn and Thigpen [(1930) J. Heredity 21, 495] as responsible for a recessive coat color dilution that worsened with age on black backgrounds. The product of the Silver gene has since been discovered numerous times in different contexts, including the initial search for the tyrosinase gene, the characterization of major melanosome constituents in various species, and the identification of tumor-associated antigens from melanoma patients. Each discoverer provided a distinct name: Pmel17, gp100, gp95, gp85, ME20, RPE1, SILV and MMP115 among others. Although all its functions are unlikely to have yet been fully described, the protein clearly plays a central role in the biogenesis of the early stages of the pigment organelle, the melanosome, in birds, and mammals. As such, we will refer to the protein in this review simply as pre-melanosomal protein (Pmel). This review will summarize the structural and functional aspects of Pmel and its role in melanosome biogenesis. PMID:16162173

Explanatory models in patients with first episode depression: a study from north India.

PubMed

Grover, Sandeep; Kumar, Vineet; Chakrabarti, Subho; Hollikatti, Prabhakar; Singh, Pritpal; Tyagi, Shikha; Kulhara, Parmanand; Avasthi, Ajit

2012-09-01

The purpose of this work was to study the explanatory models of patients with first episode depression presenting to a tertiary care hospital located in North-western India. One hundred sixty four consecutive patients with diagnosis of first episode depression (except severe depression with psychotic symptoms) according to the International Classification of Diseases-10th Revision (ICD-10) and ≥18 years of age were evaluated for their explanatory models using the causal models section of Explanatory Model Interview Catalogue (EMIC). The most common explanations given were categorized into Karma-deed-heredity category (77.4%), followed by psychological explanations (62.2%), weakness (50%) and social causes (40.2%). Among the various specific causes the commonly reported explanations by at least one-fourth of the sample in decreasing order were: will of god (51.2%), fate/chance (40.9%), weakness of nerves (37.8%), general weakness (34.7%), bad deeds (26.2%), evil eye (24.4%) and family problems (21.9%). There was some influence of sociodemographic features on the explanations given by the patients. From the study, it can be concluded that patients with first episode depression have multiple explanatory models for their symptoms of depression which are slightly different than those reported in previous studies done from other parts of India. Understanding the multiple explanatory models for their symptoms of depression can have important treatment implications. Copyright © 2012 Elsevier B.V. All rights reserved.

A twin study of erectile dysfunction.

PubMed

Fischer, Mary E; Vitek, Mary Ellen; Hedeker, Don; Henderson, William G; Jacobsen, Steven J; Goldberg, Jack

2004-01-26

The extent of genetic influence on erectile dysfunction (ED) is unknown. This study determines the contribution of heredity to ED in a sample of middle-aged men. A classical twin study was conducted in the Vietnam Era Twin Registry, a national sample of male-male pairs (mean birth year, 1949) who served on active duty during the Vietnam era (1965-1975). A 1999 male health survey was completed by 890 monozygotic (MZ) and 619 dizygotic (DZ) pairs. The prevalence and heritability of 2 self-report indicators of ED, difficulty in having an erection and in maintaining an erection, are estimated. The prevalence of difficulty in having an erection is 23.3% and in maintaining an erection is 26.7%. Twin correlations for dysfunction in having an erection are 0.35 (95% confidence interval [CI], 0.28-0.41) in MZ and 0.17 (95% CI, 0.09-0.27) in DZ pairs. For dysfunction in maintaining an erection, the twin correlations in MZ and DZ pairs are 0.39 (95% CI, 0.32-0.45) and 0.18 (95% CI, 0.09-0.27), respectively. The estimated heritability of liability for dysfunction in having an erection is 35% and in maintaining an erection is 42%. The heritable influence on ED remained significant after adjustment for ED risk factors. The present study demonstrates an ED-specific genetic component that is independent of genetic influences from numerous ED risk factors. The results suggest that future molecular genetic studies to identify ED-related polymorphisms are warranted.

From degeneration to genetic susceptibility, from eugenics to genethics, from Bezugsziffer to LOD score: the history of psychiatric genetics.

PubMed

Schulze, Thomas G; Fangerau, Heiner; Propping, Peter

2004-11-01

Reviewing the history of psychiatric genetics is a difficult task, since--in contrast to genetic research into most other disorders--it cannot simply be done by chronologically listing methodological achievements and major findings. Instead, it necessitates a comprehensive assessment of how the aetiological concept of mental disorders has developed since as early as the world of ancient Greece. Furthermore, it has to touch upon the sensitive issue of the eugenic movement that was closely linked to the study of heredity in mental disorders in the first half of the 20th century and, in Nazi Germany, led to the systematic mass murder of psychiatric patients. Finally, reviewing the scientific dimensions, history of psychiatric genetics is at the same time a walk through the history of complex genetics in general. In our review, we try to pay tribute to this complexity. We argue that psychiatric genetics has not only propelled our understanding of mental disorders but has significantly benefited genetic research into other complex disorders through the development of methodologically robust approaches (e.g., systematic phenotype characterisation, methods to control for ascertainment biases, age-correction). Given the recent reasons for new optimism, i.e., the identification of susceptibility genes for psychiatric phenotypes, a continued methodologically sound approach is needed more than ever to guarantee robust results. Finally, psychiatric genetic research should never again be performed in an environment void of ethical standards.

Preliminary Evolutionary Explanations: A Basic Framework for Conceptual Change and Explanatory Coherence in Evolution

NASA Astrophysics Data System (ADS)

Kampourakis, Kostas; Zogza, Vasso

2009-10-01

This study aimed to explore secondary students’ explanations of evolutionary processes, and to determine how consistent these were, after a specific evolution instruction. In a previous study it was found that before instruction students provided different explanations for similar processes to tasks with different content. Hence, it seemed that the structure and the content of the task may have had an effect on students’ explanations. The tasks given to students demanded evolutionary explanations, in particular explanations for the origin of homologies and adaptations. Based on the conclusions from the previous study, we developed a teaching sequence in order to overcome students’ preconceptions, as well as to achieve conceptual change and explanatory coherence. Students were taught about fundamental biological concepts and the several levels of biological organization, as well as about the mechanisms of heredity and of the origin of genetic variation. Then, all these concepts were used to teach about evolution, by relating micro-concepts (e.g. genotypes) to macro-concepts (e.g. phenotypes). Moreover, during instruction students were brought to a conceptual conflict situation, where their intuitive explanations were challenged as emphasis was put on two concepts entirely opposed to their preconceptions: chance and unpredictability. From the explanations that students provided in the post-test it is concluded that conceptual change and explanatory coherence in evolution can be achieved to a certain degree by lower secondary school students through the suggested teaching sequence and the explanatory framework, which may form a basis for teaching further about evolution.

A comparison of Dutch family doctors' and patients' perspectives on nutrition communication.

PubMed

van Dillen, S M E; Hiddink, G J

2008-12-01

In recent years, we have investigated both patients' and family doctors' communicative characteristics towards nutrition communication in general practice with several qualitative and quantitative studies. A sound comparison of the survey results between both conversation partners has not been made before. The aim of the present study was to put together data obtained by earlier studies for the first time in order to make comparisons of patients' and family doctors' communicative characteristics regarding nutrition communication. In The Netherlands, 603 patients completed a face-to-face interview-assisted questionnaire (65% response rate) and 267 family doctors completed a questionnaire (45% response rate). When comparing communicative characteristics, patients stronger believed that nutrition was an influence on health than family doctors. They also attributed a greater role to personal hygiene, stress and heredity, while family doctors were more convinced of the role of alcohol use and smoking on health. Patients more often rated their own nutrition knowledge as good than family doctors. In contrast, family doctors showed higher interest in nutrition and nutrition information than patients. As a result, a collinear model for family doctors and nutrition communication towards patients was provided. Significant differences between patients and family doctors were found for several communicative characteristics towards nutrition communication. It is important that family doctors become convinced that patients perceive them as a reliable and expert source of nutrition information. It is recommended that family doctors raise nutrition awareness among patients. Finally, we advise family doctors to pay attention to nutrition communication styles.

A genetic study of various enzyme polymorphisms in Pleurodeles waltlii (Urodele Amphibian). II. Peptidases: demonstration of sex linkage.

PubMed

Ferrier, V; Gasser, F; Jaylet, A; Cayrol, C

1983-06-01

The existence of four peptidases was demonstrated by starch gel electrophoresis in Pleurodeles waltlii: PEP-1, PEP-2, PEP-3, and PEP-4. Peptidases-3 and -4 are monomorphic, and peptidases-1 and -2 are polymorphic. The heredity of the polymorphisms was studied using individuals arising from crosses or of gynogenetic origin. Peptidase-1 is dimeric; its polymorphism depends on a pair of codominant alleles, Pep-1A and Pep-1B, which are situated on the Z and W sex chromosomes, respectively, in close proximity to, or even within, the sex differential segment. As the differential segment is very close to the centromere, the PEP-1 locus therefore also appears to be closely linked to it. Expression of the PEP-1 locus was shown to be independent of the sex hormone environment. This locus is the first case reported in amphibians of an enzyme marker linked to the genetic sex. It allows the sex of PLeurodeles to be determined before they reach sexual maturity. Peptidase-2 is monomeric. Its polymorphism depends on a pair of codominant alleles on an autosomal PEP-2 locus. The high proportion of heterozygous animals in the gynogenetic offspring of females heterozygous for the PEP-2 locus indicates segregation which is independent of the centromere. Analysis of the offspring of doubly heterozygous females (i.e., for two of the loci--LDH-B, G6PDH, PEP-1, and PEP-2) shows that the four loci are independent.

Illness perceptions among cardiac patients: Relation to depressive symptomatology and sex

PubMed Central

Grace, Sherry L.; Krepostman, Suzan; Brooks, Dina; Arthur, Heather; Scholely, Pat; Suskin, Neville; Jaglal, Susan; Abramson, Beth L.; Stewart, Donna E.

2010-01-01

Objective This study examined cardiovascular disease (CVD) illness perceptions and how they relate to depressive symptomatology among women and men. Methods Acute coronary syndrome (ACS) patients at two hospitals were approached, and 661 consented to participate (504 men, 157 women; 75% response rate). Participants completed a survey including the Hospital Anxiety and Depression Scale (HADS) and Illness Perception Questionnaire (IPQ). Results Women perceived a significantly more chronic course (P<.001) and more cyclical episodes (P<.05)than men did, while men perceived greater personal control (P<.001) and treatability (P<.05)than women did. Participants perceived diet, heredity, and stress as the greatest CVD causes. For women (F=5.49, P<.001), greater depressive symptomatology was significantly related to younger age (P<.05), lower activity status (P<.001), and perceiving a chronic time course (P<.01). For men (F=7.68, P<.001), greater depressive symptomatology was significantly related to being non-white (P<.05), lower activity status (P<.001), less exercise behavior (P=.01), and three illness perceptions, namely, perceiving a chronic course (P<.05), greater consequences (P<.001), and lower treatability (P<.05). Conclusion Women, compared with men, are more likely to attribute CVD to causes beyond their control and to perceive CVD as a chronic, untreatable condition. Illness perceptions were related to depressive symptomatology, which suggests that interventions to reframe these perceptions may be warranted to improve emotional health in the context of CVD. PMID:16198188

Ernest Everett Just: Egg and Embryo as Excitable Systems

PubMed Central

Byrnes, W. Malcolm; Newman, Stuart A.

2014-01-01

Ernest Everett Just (1883-1941) was an African American embryologist of international standing whose research interests lay in the area of fertilization and early development in marine invertebrates. Perhaps best known for his discovery of the dynamical and structural blocks to polyspermy that sweep over the egg upon fertilization, E. E. Just also was the first to associate cell surface changes with stages of embryonic development. He was deeply familiar with the natural history of the animals whose eggs he studied, and his knowledge of natural settings led him to emphasize the importance of using laboratory conditions that closely match those in nature. Based on more than thirty years of work, he came to believe that it was the cell surface that played the most critical role in development, heredity and evolution. He promoted a holistic view of cells and organisms in opposition to the gene-centric view that was becoming more prevalent with the rise of genetics, but rejected the vitalism espoused by some biologists of his era, calling instead for “a physics and chemistry in a new dimension …superimposed upon the now known physics and chemistry” to account for biological phenomena. Just’s incisive critique of genetic reductionism finds echoes in contemporary multiscale, systems approaches in biology. His speculations on the relationship between developmental and evolutionary mechanisms resonate with today’s evolutionary developmental biology. After a brief biographical sketch, this paper outlines and discusses some of Just’s scientific contributions, and shows how his ideas remain relevant today. PMID:24665037

Music-Evoked Emotions—Current Studies

PubMed Central

Schaefer, Hans-Eckhardt

2017-01-01

The present study is focused on a review of the current state of investigating music-evoked emotions experimentally, theoretically and with respect to their therapeutic potentials. After a concise historical overview and a schematic of the hearing mechanisms, experimental studies on music listeners and on music performers are discussed, starting with the presentation of characteristic musical stimuli and the basic features of tomographic imaging of emotional activation in the brain, such as functional magnetic resonance imaging (fMRI) and positron emission tomography (PET), which offer high spatial resolution in the millimeter range. The progress in correlating activation imaging in the brain to the psychological understanding of music-evoked emotion is demonstrated and some prospects for future research are outlined. Research in psychoneuroendocrinology and molecular markers is reviewed in the context of music-evoked emotions and the results indicate that the research in this area should be intensified. An assessment of studies involving measuring techniques with high temporal resolution down to the 10 ms range, as, e.g., electroencephalography (EEG), event-related brain potentials (ERP), magnetoencephalography (MEG), skin conductance response (SCR), finger temperature, and goose bump development (piloerection) can yield information on the dynamics and kinetics of emotion. Genetic investigations reviewed suggest the heredity transmission of a predilection for music. Theoretical approaches to musical emotion are directed to a unified model for experimental neurological evidence and aesthetic judgment. Finally, the reports on musical therapy are briefly outlined. The study concludes with an outlook on emerging technologies and future research fields. PMID:29225563

Awareness and Misconceptions of Breast Cancer Risk Factors Among Laypersons and Physicians.

PubMed

Morère, Jean-François; Viguier, Jérôme; Couraud, Sébastien; Brignoli-Guibaudet, Lysel; Lhomel, Christine; Pivot, Xavier B; Eisinger, François

2018-03-05

Primary prevention of cancer relies on awareness of and consequent identification of risk factors. We investigated knowledge of breast cancer risk factors not only among laywomen but also among female physicians. The EDIFICE 4 nationwide observational survey was conducted by phone interviews of a representative female population (737 laywomen and 105 female physicians) aged 40-75 years, using the quota method. This analysis focuses on spontaneous replies to the question "In your opinion, what are the five main risk factors that increase the risk of breast cancer?". Heredity/Family history of breast cancer was the most widely recognized risk factor in both study populations (98.1% physicians vs. 54.2% laywomen; P ≤ 0.01). Smoking (19.0 and 17.5%) and alcohol consumption (3.8 and 5.5%) were among the lifestyle risk factors that were cited by similar proportions of physicians and laywomen, respectively. Other established risk factors were however very rarely cited by either physicians or laywomen, e.g., Exposure to medical radiation (4.8 vs. 0.4%, respectively; P ≤ 0.05) or not cited at all, i.e., Benign mastopathy and Personal history of breast cancer. This survey highlights a number of misconceptions relating to behavioral risk factors for breast cancer, including the relative impact of alcohol and tobacco consumption and the importance of menopausal status. The limited awareness of the risk related to Exposure to medical radiation, Benign mastopathy, or Personal history raises concern regarding compliance with national screening recommendations.

ORTHOPEDIC APPROACH TO PECTUS DEFORMITIES: 32 YEARS OF STUDIES

PubMed Central

Haje, Sydney Abrão; de Podestá Haje, Davi

2015-01-01

The authors summarize a 32-year experience in the study and in the non-operative approach of pectus carinatum and pectus excavatum. Data of 4,012 patients with pectus deformities were collected from 1977 to January 2009, allowing evaluation on the etiology, pathogenesis and treatment of these deformities. Growth disturbances of anterior chest wall bones and cartilages were detected in imaging studies. Heredity, and biomechanical factors, like respiratory disturbances and scoliosis were noticed in more than 40% of the patients. The method of dynamic remodeling of the thorax – compressive orthoses simultaneously to exercises practice – was indicated in 2453 patients. Concomitant treatment with bending brace was provided in patients with 20° to 52° scoliosis. Of pectus patients with treatment indication, 1717 returned for re-evaluation: 1632 children and adolescents and 85 adults. Good results were seen in 60.6% of children and adolescents and in 27% of adults treated. No scoliosis patient presented curve worsening, and a case of 52° presented an improvement of 20° in the scoliosis with the treatment. Disturbances in the growth of the sternum and costal arches, as well as biomechanical factors related to the pathogenesis of pectus deformities, demonstrate how these deformities are correlated to orthopaedics. Appropriate evaluation of the anterior chest wall and concomitant treatment with bending brace are recommended in the presence of scoliosis. The dynamic remodeling method of the thorax requires a protocol of medical actions for a successful treatment. PMID:27004171

Evolutionary constraints or opportunities?

PubMed

Sharov, Alexei A

2014-04-22

Natural selection is traditionally viewed as a leading factor of evolution, whereas variation is assumed to be random and non-directional. Any order in variation is attributed to epigenetic or developmental constraints that can hinder the action of natural selection. In contrast I consider the positive role of epigenetic mechanisms in evolution because they provide organisms with opportunities for rapid adaptive change. Because the term "constraint" has negative connotations, I use the term "regulated variation" to emphasize the adaptive nature of phenotypic variation, which helps populations and species to survive and evolve in changing environments. The capacity to produce regulated variation is a phenotypic property, which is not described in the genome. Instead, the genome acts as a switchboard, where mostly random mutations switch "on" or "off" preexisting functional capacities of organism components. Thus, there are two channels of heredity: informational (genomic) and structure-functional (phenotypic). Functional capacities of organisms most likely emerged in a chain of modifications and combinations of more simple ancestral functions. The role of DNA has been to keep records of these changes (without describing the result) so that they can be reproduced in the following generations. Evolutionary opportunities include adjustments of individual functions, multitasking, connection between various components of an organism, and interaction between organisms. The adaptive nature of regulated variation can be explained by the differential success of lineages in macro-evolution. Lineages with more advantageous patterns of regulated variation are likely to produce more species and secure more resources (i.e., long-term lineage selection). Copyright © 2014. Published by Elsevier Ireland Ltd.

The eBioKit, a stand-alone educational platform for bioinformatics.

PubMed

Hernández-de-Diego, Rafael; de Villiers, Etienne P; Klingström, Tomas; Gourlé, Hadrien; Conesa, Ana; Bongcam-Rudloff, Erik

2017-09-01

Bioinformatics skills have become essential for many research areas; however, the availability of qualified researchers is usually lower than the demand and training to increase the number of able bioinformaticians is an important task for the bioinformatics community. When conducting training or hands-on tutorials, the lack of control over the analysis tools and repositories often results in undesirable situations during training, as unavailable online tools or version conflicts may delay, complicate, or even prevent the successful completion of a training event. The eBioKit is a stand-alone educational platform that hosts numerous tools and databases for bioinformatics research and allows training to take place in a controlled environment. A key advantage of the eBioKit over other existing teaching solutions is that all the required software and databases are locally installed on the system, significantly reducing the dependence on the internet. Furthermore, the architecture of the eBioKit has demonstrated itself to be an excellent balance between portability and performance, not only making the eBioKit an exceptional educational tool but also providing small research groups with a platform to incorporate bioinformatics analysis in their research. As a result, the eBioKit has formed an integral part of training and research performed by a wide variety of universities and organizations such as the Pan African Bioinformatics Network (H3ABioNet) as part of the initiative Human Heredity and Health in Africa (H3Africa), the Southern Africa Network for Biosciences (SAnBio) initiative, the Biosciences eastern and central Africa (BecA) hub, and the International Glossina Genome Initiative.

Home environment, lifestyles behaviors, and rhinitis in childhood.

PubMed

Wang, Xueying; Liu, Wei; Hu, Yu; Zou, Zhijun; Shen, Li; Huang, Chen

2016-03-01

The prevalence of children allergic rhinitis has been increasing in China and associated factors still are not clear. In the present paper, we selected 13,335 parent-reported questionnaires of 4-6 years-old children, in a cross-sectional study from April 2011 to April 2012 in Shanghai city, and investigated associations of various factors with parent-reported allergic rhinitis (doctor-diagnosed) and rhinitis symptoms in childhood. After adjusted by age, sex, family history of atopy, and respondent of questionnaire, we find that no siblings, mother in older age during pregnancy, shorter breastfeeding, using antibiotics in the first year, and home dampness-related exposures, had significant associations with increased prevalence of the studied diseases. Location, type, building area, decoration materials and construction period of the residence, also had significant associations with these diseases. Current parental smoking and pet-keeping had no significant associations with the studied diseases. Incense-burning and using mosquito coils had significant associations with reduced risk of allergic rhinitis and with increased risk of rhinitis symptoms. Using air cleaner and cleaning the residence in high frequency had associations with increased risk, but eating fast food and ice cream often had associations with the reduced risk, of the studied diseases. Families with children being diagnosed allergic rhinitis likely change their lifestyle behaviors. In conclusion, childhood rhinitis could be influenced by heredity and many "environmental exposures". Avoidance behaviors and reverse causation in parental smoking, pet-keeping, and dietary habits for childhood rhinitis should be carefully considered. Copyright © 2015 Elsevier GmbH. All rights reserved.

WDR1 and CLNK gene polymorphisms correlate with serum glucose and high-density lipoprotein levels in Tibetan gout patients.

PubMed

Lan, Bing; Chen, Peng; Jiri, Mutu; He, Na; Feng, Tian; Liu, Kai; Jin, Tianbo; Kang, Longli

2016-03-01

Current evidence suggests heredity and metabolic syndrome contributes to gout progression. Specifically, the WDR1 and CLNK genes may play a role in gout progression in European ancestry populations. However, no studies have focused on Chinese populations, especially Tibetan individuals. This study aims to determine whether variations in these two genes correlate with gout-related indices in Chinese-Tibetan gout patients. Eleven single-nucleotide polymorphisms in the WDR1 and CLNK genes were detected in 319 Chinese-Tibetan gout patients and 318 controls. We used one-way analysis of variance to evaluate the polymorphisms' effects on gout based on mean serum levels of metabolism indicators, such as albumin, glucose (GLU), triglycerides, cholesterol, high-density lipoproteins (HDL-C), creatinine, and uric acid, from fasting venous blood samples. All p values were Bonferroni corrected. Polymorphisms of the WDR1 and CLNK genes affected multiple risk factors for gout development. Significant differences in serum GLU levels were detected between different genotypic groups with WDRI polymorphisms rs4604059 (p = 0.005) and rs12498927 (p = 0.005). In addition, significant differences in serum HDL-C levels were detected between different genotypic groups with the CLNK polymorphism rs2041215 (p = 0.001). Polymorphisms of CLNK also affected levels of albumin, triglycerides, and creatinine. This study is the first to investigate and identify positive correlations between WDR1 and CLNK gene polymorphisms in Chinese-Tibetan populations. Our findings provide significant evidence for the effect of genetic polymorphisms on gout-related factors in Chinese-Tibetan populations.

A qualitative study on overuse injuries: the beliefs of athletes and coaches.

PubMed

van Wilgen, C P; Verhagen, E A L M

2012-03-01

Preventive approaches for overuse injuries in sports will be more successful when synchronised with athletes' and coaches' beliefs. We interviewed athletes and coaches in order to better characterize their beliefs about the definition of an overuse injury, as well as the intrinsic and extrinsic risk factors that underlie overuse injuries. Qualitative study using in-depth interviews in athletes and coaches of different sports. Athletes who had experienced overuse injuries and coaches who trained athletes who had sustained overuse injuries from sports clubs were invited to participate through interview. We explored each participant's individual definition of an overuse injury and the beliefs concerning the intrinsic and extrinsic risk factors concerning overuse injuries were explored. After nine athletes and nine coaches, sample size saturation was confirmed. Athletes and coaches integrate somatic as well as psychological and sociological factors into the definition of and risk factors for overuse injuries. Intrinsic factors for an overuse injury were related to physical factors, technique, psychological factors and heredity. The extrinsic factors were related to situational, social and training factors, as well as the individual coach. Athletes and coaches have a holistic view on the definition of overuse injuries, and the intrinsic and extrinsic risk factors for overuse injuries. If preventive approaches for overuse injuries are developed and implemented, they should incorporate physical factors, as well as incorporate psychological and social factors. Based on the input of coaches and athletes, the latter are important risk factors for overuse injuries. Copyright © 2011 Sports Medicine Australia. Published by Elsevier Ltd. All rights reserved.

Differential sensitivity of the nicotinic receptor of long (LS) and short (SS) sleep mice to ethanol (E) and forane (F)

DOE Office of Scientific and Technical Information (OSTI.GOV)

McArdle, J.J.; Choi, J.J.

1989-02-09

Studies of inbred mice indicate that heredity determines the behavioral response to CNS depressants. For example, LS mice lose their righting reflex at blood levels of E having no effect on this reflex of SS mice. In order to determine if such differential sensitivity extends to the effects of depressants known to alter the mean open time (tau) of the ion channel activated by the nicotinic acetylcholine receptor (AR), we used an extracellular electrode to record miniature end-plate currents (23 C) from the triangularis sterni muscle of adult male LS and SS mice. The average decay time constant (tau) ofmore » 70 currents was calculated before, during and after drug exposure. Tau was the same for LS and SS mice (1.41 {plus minus} 0.03 mS and 1.47 {plus minus} 0.02 mS, respectively) prior to treatment and was reversible prolonged by E and shortened by F as expected. However, tau of SS mice was more responsive. For example, 25 mM of E increased tau by 12.9% and 3.8% in SS and LS mice, respectively. Likewise, the decrease of tau in response to 3 mM F was 18.5% and 9.2%. The net result was that the curve relating tau for LS mice to drug concentration was to the right of the for SS mice. These data suggest that the sensitivity of the peripheral AR to CNS depressants can be genetically controlled.« less

The link between parental allergy and offspring allergic and nonallergic rhinitis.

PubMed

Westman, M; Kull, I; Lind, T; Melén, E; Stjärne, P; Toskala, E; Wickman, M; Bergström, A

2013-12-01

Parental allergy-related disease increases the risk for rhinitis, but it remains unknown how different phenotypes of parental allergy affect this risk. The aim of this study was to investigate how parental hay fever, asthma, and eczema affect the risk of allergic rhinitis (AR) and nonallergic rhinitis (NAR) at 8 years of age. Information on 2413 children from a population-based birth cohort was used combining questionnaire data and IgE to inhalant allergens. Logistic regression was used to estimate the association between parental allergy-related disease and AR and NAR. In addition, cluster analysis was used to search for latent phenotypes of heredity likely to be associated with AR and NAR. At age 8 years, 13.8% of the children had AR, while 6.4% had NAR. Parental isolated hay fever increased the odds of AR (OR 2.2, 95% CI 1.6-3.2), whereas isolated asthma or eczema did not. The odds of NAR increased when one parent had two or more allergy-related diseases. In the cluster analysis, the highest proportion of AR, 37.5%, was seen in a cluster where both parents had hay fever and pollen allergy and that of NAR, 11.0%, in a cluster where one parent had hay fever, pollen allergy, and eczema. Parental allergy-related disease may be an important risk factor for NAR as well as AR, and the risk is comparable for maternal and paternal allergy. Parental hay fever seems to be the dominating hereditary risk factor for AR. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Development and pilot evaluation of novel genetic educational materials designed for an underserved patient population.

PubMed

Lubitz, Rebecca Jean; Komaromy, Miriam; Crawford, Beth; Beattie, Mary; Lee, Robin; Luce, Judith; Ziegler, John

2007-01-01

Genetic counseling for BRCA1 and BRCA2 mutations involves teaching about hereditary cancer, genetics and risk, subjects that are difficult to grasp and are routinely misunderstood. Supported by a grant from the Avon Foundation, the UCSF Cancer Risk Program started the first genetic testing and counseling service for a population of traditionally underserved women of varied ethnic and social backgrounds at the San Francisco General Hospital (SFGH). Informed by educational theory and clinical experience, we devised and piloted two simplified explanations of heredity and genetic risk, with the aim of uncovering how to best communicate genetics and risk to this underserved population. A "conventional" version comprised pictures of genes, pedigrees, and quantitative representations of risk. A "colloquial" pictorial version used an analogy of the "information book" of genes, family stories and vignettes, and visual representations of risk, without using scientific words such as genes or chromosomes. A verbal narrative accompanied each picture. We presented these modules to four focus groups of five to eight women recruited from the SFGH Family Practice Clinic. Overall, women preferred a picture-based approach and commented that additional text would have been distracting. The majority of women preferred the colloquial version because it was easier to understand and better conveyed a sense of comfort and hope. We conclude that simplicity, analogies, and familiarity support comprehension while vignettes, family stories, and photos of real people provide comfort and hope. These elements may promote understanding of complex scientific topics in healthcare, particularly when communicating with patients who come from disadvantaged backgrounds.

Hereditary family signature of facial expression

PubMed Central

Peleg, Gili; Katzir, Gadi; Peleg, Ofer; Kamara, Michal; Brodsky, Leonid; Hel-Or, Hagit; Keren, Daniel; Nevo, Eviatar

2006-01-01

Although facial expressions of emotion are universal, individual differences create a facial expression “signature” for each person; but, is there a unique family facial expression signature? Only a few family studies on the heredity of facial expressions have been performed, none of which compared the gestalt of movements in various emotional states; they compared only a few movements in one or two emotional states. No studies, to our knowledge, have compared movements of congenitally blind subjects with their relatives to our knowledge. Using two types of analyses, we show a correlation between movements of congenitally blind subjects with those of their relatives in think-concentrate, sadness, anger, disgust, joy, and surprise and provide evidence for a unique family facial expression signature. In the analysis “in-out family test,” a particular movement was compared each time across subjects. Results show that the frequency of occurrence of a movement of a congenitally blind subject in his family is significantly higher than that outside of his family in think-concentrate, sadness, and anger. In the analysis “the classification test,” in which congenitally blind subjects were classified to their families according to the gestalt of movements, results show 80% correct classification over the entire interview and 75% in anger. Analysis of the movements' frequencies in anger revealed a correlation between the movements' frequencies of congenitally blind individuals and those of their relatives. This study anticipates discovering genes that influence facial expressions, understanding their evolutionary significance, and elucidating repair mechanisms for syndromes lacking facial expression, such as autism. PMID:17043232

Porque me tocó a mi? Mexican American diabetes patients' causal stories and their relationship to treatment behaviors.

PubMed

Hunt, L M; Valenzuela, M A; Pugh, J A

1998-04-01

This paper reports findings from an ethnographic study of self-care behaviors and illness concepts among Mexican-American non-insulin dependent diabetes mellitus (NIDDM) patients. Open-ended interviews were conducted with 49 NIDDM patients from two public hospital outpatient clinics in South Texas. They are self-identified Mexican-Americans who have had NIDDM for at least 1 yr, and have no major impairment due to NIDDM. Interviews focused on their concepts and experiences in managing their illness and their self-care behaviors. Clinical assessment of their glucose control was also extracted from their medical records. The texts of patient interviews were content analyzed through building and refining thematic matrixes focusing on their causal explanations and treatment behaviors. We found patients' causal explanations of their illness often are driven by an effort to connect the illness in a direct and specific way to their personal history and their past experience with treatments. While most cite biomedically accepted causes such as heredity and diet, they elaborate these concepts into personally relevant constructs by citing Provoking Factors, such as behaviors or events. Their causal models are thus both specific to their personal history and consistent with their experiences with treatment success or failure. Based on these findings, we raise a critique of the Locus of Control Model of treatment behavior prevalent in the diabetes education literature. Our analysis suggests that a sense that one's own behavior is important to the disease onset may reflect patients' evaluation of their experience with treatment outcomes, rather than determining their level of activity in treatment.

Comparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett Syndrome

PubMed Central

Kunio, Miyake; Yang, Chunshu; Minakuchi, Yohei; Ohori, Kenta; Soutome, Masaki; Hirasawa, Takae; Kazuki, Yasuhiro; Adachi, Noboru; Suzuki, Seiko; Itoh, Masayuki; Goto, Yu-ichi; Andoh, Tomoko; Kurosawa, Hiroshi; Akamatsu, Wado; Ohyama, Manabu; Okano, Hideyuki; Oshimura, Mitsuo; Sasaki, Masayuki; Toyoda, Atsushi; Kubota, Takeo

2013-01-01

Monozygotic (identical) twins have been widely used in genetic studies to determine the relative contributions of heredity and the environment in human diseases. Discordance in disease manifestation between affected monozygotic twins has been attributed to either environmental factors or different patterns of X chromosome inactivation (XCI). However, recent studies have identified genetic and epigenetic differences between monozygotic twins, thereby challenging the accepted experimental model for distinguishing the effects of nature and nurture. Here, we report the genomic and epigenomic sequences in skin fibroblasts of a discordant monozygotic twin pair with Rett syndrome, an X-linked neurodevelopmental disorder characterized by autistic features, epileptic seizures, gait ataxia and stereotypical hand movements. The twins shared the same de novo mutation in exon 4 of the MECP2 gene (G269AfsX288), which was paternal in origin and occurred during spermatogenesis. The XCI patterns in the twins did not differ in lymphocytes, skin fibroblasts, and hair cells (which originate from ectoderm as does neuronal tissue). No reproducible differences were detected between the twins in single nucleotide polymorphisms (SNPs), insertion-deletion polymorphisms (indels), or copy number variations. Differences in DNA methylation between the twins were detected in fibroblasts in the upstream regions of genes involved in brain function and skeletal tissues such as Mohawk Homeobox (MKX), Brain-type Creatine Kinase (CKB), and FYN Tyrosine Kinase Protooncogene (FYN). The level of methylation in these upstream regions was inversely correlated with the level of gene expression. Thus, differences in DNA methylation patterns likely underlie the discordance in Rett phenotypes between the twins. PMID:23805272

Male behaviors reveal multiple pherotypes within vine mealybug Planococcus ficus (Signoret) (Hemiptera; Pseudococcidae) populations

NASA Astrophysics Data System (ADS)

Kol-Maimon, Hofit; Levi-Zada, Anat; Franco, José Carlos; Dunkelblum, Ezra; Protasov, Alex; Eliyaho, Miriam; Mendel, Zvi

2010-12-01

The vine mealybug (VM) females collected in Israel produce two sex pheromone compounds: lavandulyl senecioate (LS) and ( S)-lavandulyl isovalerate (LI). The males display ambiguous behavior to LI: repulsion in the vineyard and attraction of laboratory-reared males. We addressed the question of individual male behavior, i.e., do males respond to both LS and LI, or might they display a distinct response to each of the two pheromone compounds. We compared male pherotype frequencies between wild-caught and laboratory-reared populations. Then, we examined the relationship between pherotype composition and male capture rates in pheromone traps. Finally, we addressed the heredity of the pherotypes. The Israeli VM populations contain nine different male pherotypes, as defined according to the male behavior to pheromone compounds. The studied Portuguese populations included five of the nine pherotypes; none of the Portuguese males were attracted to LI. It seems that the high frequency of males that were attracted to LI is related to dense VM populations. It is hypothesized that selection for the male pherotypes, I males, those that respond to LI, occur under high-density rearing conditions. This may result from shorter development times of males and females that produce more I male pherotypes. The lower relative frequency of trapping of males in LI-baited traps than expected from the percentage determined in a Petri dish arena suggests that males that respond solely to LS (S males) are better fliers. The results also suggest that the pherotype trait is inherited by both sexes of the VM.

The Release 6 reference sequence of the Drosophila melanogaster genome

DOE PAGES

Hoskins, Roger A.; Carlson, Joseph W.; Wan, Kenneth H.; ...

2015-01-14

Drosophila melanogaster plays an important role in molecular, genetic, and genomic studies of heredity, development, metabolism, behavior, and human disease. The initial reference genome sequence reported more than a decade ago had a profound impact on progress in Drosophila research, and improving the accuracy and completeness of this sequence continues to be important to further progress. We previously described improvement of the 117-Mb sequence in the euchromatic portion of the genome and 21 Mb in the heterochromatic portion, using a whole-genome shotgun assembly, BAC physical mapping, and clone-based finishing. Here, we report an improved reference sequence of the single-copy andmore » middle-repetitive regions of the genome, produced using cytogenetic mapping to mitotic and polytene chromosomes, clone-based finishing and BAC fingerprint verification, ordering of scaffolds by alignment to cDNA sequences, incorporation of other map and sequence data, and validation by whole-genome optical restriction mapping. These data substantially improve the accuracy and completeness of the reference sequence and the order and orientation of sequence scaffolds into chromosome arm assemblies. Representation of the Y chromosome and other heterochromatic regions is particularly improved. The new 143.9-Mb reference sequence, designated Release 6, effectively exhausts clone-based technologies for mapping and sequencing. Highly repeat-rich regions, including large satellite blocks and functional elements such as the ribosomal RNA genes and the centromeres, are largely inaccessible to current sequencing and assembly methods and remain poorly represented. In conclusion, further significant improvements will require sequencing technologies that do not depend on molecular cloning and that produce very long reads.« less

The Release 6 reference sequence of the Drosophila melanogaster genome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Hoskins, Roger A.; Carlson, Joseph W.; Wan, Kenneth H.

Drosophila melanogaster plays an important role in molecular, genetic, and genomic studies of heredity, development, metabolism, behavior, and human disease. The initial reference genome sequence reported more than a decade ago had a profound impact on progress in Drosophila research, and improving the accuracy and completeness of this sequence continues to be important to further progress. We previously described improvement of the 117-Mb sequence in the euchromatic portion of the genome and 21 Mb in the heterochromatic portion, using a whole-genome shotgun assembly, BAC physical mapping, and clone-based finishing. Here, we report an improved reference sequence of the single-copy andmore » middle-repetitive regions of the genome, produced using cytogenetic mapping to mitotic and polytene chromosomes, clone-based finishing and BAC fingerprint verification, ordering of scaffolds by alignment to cDNA sequences, incorporation of other map and sequence data, and validation by whole-genome optical restriction mapping. These data substantially improve the accuracy and completeness of the reference sequence and the order and orientation of sequence scaffolds into chromosome arm assemblies. Representation of the Y chromosome and other heterochromatic regions is particularly improved. The new 143.9-Mb reference sequence, designated Release 6, effectively exhausts clone-based technologies for mapping and sequencing. Highly repeat-rich regions, including large satellite blocks and functional elements such as the ribosomal RNA genes and the centromeres, are largely inaccessible to current sequencing and assembly methods and remain poorly represented. In conclusion, further significant improvements will require sequencing technologies that do not depend on molecular cloning and that produce very long reads.« less

Crafting socialist embryology: dialectics, aquaculture and the diverging discipline in Maoist China, 1950-1965.

PubMed

Jiang, Lijing

2017-11-07

In the 1950s, embryology in socialist China underwent a series of changes that adjusted the disciplinary apparatus to suit socialism and the national goal of self-reliance. As the Communist state called on scientists to learn from the Soviets, embryologists' comprehensive view on heredity, which did not contradict Trofim Lysenko (1898-1976)'s doctrines, provided a space for them to advance their discipline. Leading scientists, often trained abroad in the tradition of experimental embryology, rode on the tides of Maoist ideology and repositioned their research. Some of their creative realignment of previous research questions, materials, and traditions to Marxist philosophy and agricultural objectives generated productive programs. In particular, Tong Dizhou (1902-1979) translated Engels's dialectics of nature into a research question about cytoplasmic inheritance. His continuing investigation on it led to the first goldfish "clone" through a nuclear transplantation experiment; Zhu Xi and his associates transferred a goldfish model in embryology into studies on improving carp aquaculture, leading to a rare success in the Great Leap Forward of 1958. These directions for embryology continued well into the 1960s. At a time when global embryology was diversifying and began to be molecularized, eventually forming "developmental biology," socialist embryology took shape in China with a different set of epistemic and practical commitments. The history of its development challenges and enriches our understanding of the concrete process of change in one discipline under Mao, showing ways in which scientists creatively adapted state-sanctioned ideologies and visions to do productive work outside the framework of molecular biology during the Cold War.

Science as a (TRANSITORY?) Phase in Human Evolution

NASA Astrophysics Data System (ADS)

Leibowitz, Elia

One of the key elements of human knowledge in the last 150 years is the recognition that the universe, as well as each of its components, are in a permanent stage of evolution. Mankind and human affairs are of course no exceptions. Human beings owe their biological supremacy to the possession of a form of inheritance quite unlike that of other animals: exogenetic heredity. They have a non genetic channel for transmitting information from one generation to another, namely, the entire apparatus of culture. As information is correlated with brain structure, culture is a non genetic means to create patterns in human brains. It therefore plays a major role in human evolution. This apparatus by itself is however also undergoing a process of evolution. Using examples of astronomical, cosmological and other cultural concepts and argumentations, I shall show that throughout recorded human history, 4 distinct phases can be recognized in the evolution of this non genetic apparatus. The latest phase, the beginning of which is symbolized by the life and work of Galileo, is the "scientific" era. At the turn of the millenium, humankind is possibly at a transition state, from the "scientific" towards a new phase that may be termed a "public relation" or "propaganda" era. Causes for this transition can be found among recent developments in mass media and communications. These, in turn, are correlated with modern, 20th century trends in economy, technology and sociology that are other dominants factors in this transition. The apparent decline of the "scientific" culture may have profound consequences on the future evolution of mankind.

Compliance with treatment and understanding of own disease in patients with severe and moderate haemophilia.

PubMed

Lindvall, K; Colstrup, L; Wollter, I-M; Klemenz, G; Loogna, K; Grönhaug, S; Thykjaer, H

2006-01-01

It is well known that teenagers with chronic diseases have problems complying with their treatment. The aim of this study was to evaluate the patient's knowledge of haemophilia and his compliance to prophylactic treatment, and the age at which the patient took over the responsibility for his disease and to create educational material for teenagers and adolescents. This was a prospective multicentre study performed in Hemophilia Treatment Centres in Scandinavia. A total of 108 of 134 patients, between 13 and 25 years completed the questionnaire, a response rate of 80%. Eighty-three patients had a severe form of haemophilia, 24 patients in moderate form and one patient did not know the severity of his disease. Seventy-eight patients were on prophylactic treatment. The median age for starting prophylactic treatment was 3.0 years and the median age for the patient performing venepuncture was 11.6 years. Sixty-seven of 78 patients knew that the best time to give prophylactic treatment was in the morning. Even though the patients were on prophylactic treatment, 47 of 78 patients took additional treatment before sports activities. At a mean age of 14.1 years the patient himself had the responsibility for his disease and treatment. In the cohort of 108 patients, 73 were aware of their haemophilia heredity. This study shows a rather high degree of knowledge of haemophilia and compliance with treatment among the patients but it is of great importance for the nurse to continuously improve the patient's compliance and keep him aware of the benefit of regular treatment for his future well being.

Genetic and environmental-genetic interaction rules for the myopia based on a family exposed to risk from a myopic environment.

PubMed

Wenbo, Li; Congxia, Bai; Hui, Liu

2017-08-30

To quantitatively assess the role of heredity and environmental factors in myopia based on the family with enough exposed to risk from myopic environment for establishment of environmental and genetic index (EGI). A pedigree analysis unit was defined as one child (university student), father, and mother. Information pertaining to visual acuity, experience in participating in the college entrance examination in mainland of China (regarded as a strong environmental risk for myopia), and occupation for pedigree analysis units were obtained. The difference between effect of both genetic and environmental factors (myopia prevalence in children with two myopic parents) and environmental factors (myopia prevalence in children of whom neither parent was myopic) was defined as the EGI. Multiple regression analysis was performed for 114 pedigree using diopters of father, mother, average diopters in parents, maximum and minimum diopters in father and mother as variables. A total of 353 farmers and 162 farmer families were used as a control group. A distinct difference in myopia rate (96.2% versus 57.7%) was observed for children from parents with myopia and parents without myopia (EGI=0.385). The maximum diopter was included to regression equation which was statistically significant. The prevalence of myopia was 9.9% in the farmer. The prevalence in children is similar between the farmer and other families. A new genetic rule that myopia in children was directly related with maximum diopters in father and mother may be suggested. Environmental factors may play a leading role in the formation of myopia. Copyright © 2017 Elsevier B.V. All rights reserved.

Study of Patient Information after percutaneous Coronary Intervention (SPICI): should prevention programmes become more effective?

PubMed

Perk, Joep; Hambraeus, Kristina; Burell, Gunilla; Carlsson, Roland; Johansson, Pelle; Lisspers, Jan

2015-03-22

This cross-sectional observational study was designed to evaluate the uptake and outcome of patient education after percutaneous coronary intervention (PCI). A questionnaire containing 41 items was handed out to consecutive patients from randomly selected Swedish hospitals after PCI. Questions concerned the patient's attribution of the cause of the cardiac event, perception of the information provided by physicians and nurses, and a self-assessment of changes in lifestyle post PCI regarding tobacco, physical activity, food habits and stress. Replies were obtained from 1,073 patients (reply rate 67%). Non-modifiable risk factors (age, heredity) were attributed a higher rate as the cause of disease compared to modifiable factors (smoking, physical activity, food habits). Most patients (67%) perceived they were cured, and 38% perceived from the given information that there was no need to change their habits. A mere 27% reported that they still had cardiovascular disease and needed behavioural change. After PCI, 16% continued to use tobacco; half of these were offered smoking cessation support. In spite of an 80% referral rate to cardiac rehabilitation, one out of two patients did not enrol. Fewer than half were regularly physically active. Nutritional counselling was provided to 71%, but only 40% changed food habits. Stress management programmes were rarely provided. Current preventive practice scarcely meets the challenge posed by the progress in modern invasive cardiology. The Study of Patient Information after percutaneous Coronary Intervention (SPICI) motivates an in-depth revision and adaptation of cardiac rehabilitation programmes in order to improve patient understanding of the disease, and to support greater compliance with a cardioprotective lifestyle.

Evaluation of Proteinuria in β-Thalassemia Major Patients With and Without Diabetes Mellitus Taking Deferasirox.

PubMed

Karimi, Mehran; Avazpour, Abbas; Haghpanah, Sezaneh; Toosi, Foroogh; Badie, Arash

2017-01-01

β-thalassemia is the most common heredity disease in Iran. Regular blood transfusion is critical to sustain life and normal growth. Deferasirox is an oral chelator. One of the side effects of the deferasirox is proteinuria. This study aimed to investigate the safety of deferasirox on kidney function in diabetic and nondiabetic β-thalassemia major patients. In this cross-sectional study, 34 diabetic and 36 nondiabetic patients who take deferasirox (Exjade) 20 to 40 mg/kg/d were studied. Exclusion criteria included patient with renal failure, proteinuria, hepatitis B, hepatitis C, and the patients who refused to continue the study to the end. Subjects were divided into diabetic and nondiabetic groups. Spot urine protein/creatinine ratio, urinary analysis, alanine transaminase, aspartate transaminase, creatinine, fasting blood sugar, blood urea nitrogen, and serum ferritin were checked every 3 months. Patients were followed for a period of 1 year. In the ninth month after therapy there was a significant relationship in mean change of spot urine protein/creatinine ratio between diabetic and nondiabetic (P=0.011). Spot urine protein/creatinine ratio in diabetic and nondiabetic group was 0.19±0.18 and 0.1±0.05, respectively, which showed no significant relationship between the 2 groups at the end of study (P=0.162). The results of our study showed that consumption of deferasirox is safe, as there was no significant relationship between spot urine protein/creatinine ratio in diabetic and nondiabetic group. Deferasirox consumption is not associated with increased proteinuria in diabetic patients compared with nondiabetic group having only a transient proteinuria.

Comparative Dermatoglyphic Study between Autistic Patients and Normal People in Iran

PubMed Central

Kazemi, Mansoureh; Fayyazi-Bordbar, Mohammad Reza; Mahdavi-Shahri, Nasser

2017-01-01

Autism is a neurodevelopmental disorder originating from early childhood; nevertheless, its diagnosis is in older ages. In addition to heredity, environmental factors are also of great significance in the etiology of the disease. Dermatoglyphic patterns, albeit varied, remain stable for a lifetime and yield a large number of patterns upon examination. Studies have shown a significant association between dermatoglyphics and some diseases, especially genetic ones. We compared fingerprints between patients with autism and normal individuals in a Fars population living in Khorasan-Razavi Province, Iran, in 2015. The right and left hand fingerprints of 104 autistic individuals (case group; age range=5–15 y) were collected using a fingerprint scanner. The same process was performed for 102 healthy individuals, in the age range of 6 to 25 years. All dermatoglyphic patterns and ridge counts were determined. The data were analyzed using the Mann–Whitney nonparametric test and binomial distribution. There was a significant difference in the distribution of the dermatoglyphic patterns on the right and left thumbs and the index fingers between the case and control groups (P<0.05). The patients had a significantly higher count of loops on their right and left thumbs and their index fingers. A significant decrease in ridge counts for the right and left thumbs and the index fingers was observed in the patients compared to the controls. The results suggested that the patterns were associated with the risk of autism. The patterns may be drawn upon as biometric parameters in the screening of children with autism. PMID:28761206

Nanoblast synthesis and consolidation of (La0.8Sr0.2)(Ga0.9Mg0.1)O(3-delta) under Spark plasma sintering conditions.

PubMed

Vasylkiv, Oleg; Borodianska, Hanna; Badica, Petre; Zhen, Yongda; Tok, Alfred

2009-01-01

Four-cation nanograined strontium and magnesium doped lanthanum gallate (La0.8Sr0.2) (Ga0.9Mg0.1)O(3-delta) (LSGM) and its composite with 2 wt% of ceria (LSGM-Ce) were prepared. Morphologically homogeneous nanoreactors, i.e., complex intermediate metastable aggregates of desired composition were assembled by spray atomization technique, and subsequently loaded with nanoparticles of highly energetic C3H6N6O6. Rapid nanoblast calcination technique was applied and the final composition was synthesized within the preliminary localized volumes of each single nanoreactor on the first step of spark plasma treatment. Subsequent SPS consolidations of nanostructured extremely active LSGM and LSGM-Ce powders were achieved by rapid treatment under pressures of 90-110 MPa. This technique provided the heredity of the final structure of nanosize multimetal oxide, allowed the prevention of the uncontrolled agglomeration during multicomponent aggregates assembling, subsequent nanoblast calcination, and final ultra-rapid low-temperature SPS consolidation of nanostructured ceramics. LaSrGaMgCeO(3-delta) nanocrystalline powder consisting of approximately 11 nm crystallites was consolidated to LSGM-Ce nanoceramic with average grain size of approximately 14 nm by low-temperature SPS at 1250 degrees C. Our preliminary results indicate that nanostructured samples of (La0.8Sr0.2)(Ga0.9Mg0.1)O(3-delta) with 2 wt% of ceria composed of approximataley 14 nm grains can exhibit giant magnetoresistive effect in contrast to the usual paramagnetic properties measured on the samples with larger grain size.

Heritability of motor control and motor learning

PubMed Central

Missitzi, Julia; Gentner, Reinhard; Misitzi, Angelica; Geladas, Nickos; Politis, Panagiotis; Klissouras, Vassilis; Classen, Joseph

2013-01-01

Abstract The aim of this study was to elucidate the relative contribution of genes and environment on individual differences in motor control and acquisition of a force control task, in view of recent association studies showing that several candidate polymorphisms may have an effect on them. Forty‐four healthy female twins performed brisk isometric abductions with their right thumb. Force was recorded by a transducer and fed back to the subject on a computer screen. The task was to place the tracing of the peak force in a force window defined between 30% and 40% of the subject's maximum force, as determined beforehand. The initial level of proficiency was defined as the number of attempts reaching the force window criterion within the first 100 trials. The difference between the number of successful trials within the last and the first 100 trials was taken as a measure of motor learning. For motor control, defined by the initial level of proficiency, the intrapair differences in monozygotic (MZ) and dizygotic (DZ) twins were 6.8 ± 7.8 and 13.8 ± 8.4, and the intrapair correlations 0.77 and 0.39, respectively. Heritability was estimated at 0.68. Likewise for motor learning intrapair differences in the increment of the number of successful trials in MZ and DZ twins were 5.4 ± 5.2 and 12.8 ± 7, and the intrapair correlations 0.58 and 0.19. Heritability reached 0.70. The present findings suggest that heredity accounts for a major part of existing differences in motor control and motor learning, but uncertainty remains which gene polymorphisms may be responsible. PMID:24744865

Superposition and alignment of labeled point clouds.

PubMed

Fober, Thomas; Glinca, Serghei; Klebe, Gerhard; Hüllermeier, Eyke

2011-01-01

Geometric objects are often represented approximately in terms of a finite set of points in three-dimensional euclidean space. In this paper, we extend this representation to what we call labeled point clouds. A labeled point cloud is a finite set of points, where each point is not only associated with a position in three-dimensional space, but also with a discrete class label that represents a specific property. This type of model is especially suitable for modeling biomolecules such as proteins and protein binding sites, where a label may represent an atom type or a physico-chemical property. Proceeding from this representation, we address the question of how to compare two labeled points clouds in terms of their similarity. Using fuzzy modeling techniques, we develop a suitable similarity measure as well as an efficient evolutionary algorithm to compute it. Moreover, we consider the problem of establishing an alignment of the structures in the sense of a one-to-one correspondence between their basic constituents. From a biological point of view, alignments of this kind are of great interest, since mutually corresponding molecular constituents offer important information about evolution and heredity, and can also serve as a means to explain a degree of similarity. In this paper, we therefore develop a method for computing pairwise or multiple alignments of labeled point clouds. To this end, we proceed from an optimal superposition of the corresponding point clouds and construct an alignment which is as much as possible in agreement with the neighborhood structure established by this superposition. We apply our methods to the structural analysis of protein binding sites.

[Suicidality in German-speaking school psychiatry : Thematization in textbooks from 1803 until the present].

PubMed

Gnoth, M; Glaesmer, H; Steinberg, H

2017-10-05

This chronology gives an overview about continuities and changes in the perception of suicidality in German-speaking school psychiatry over the past 200+ years. This study was guided by the following questions: has suicidality been perceived as regularly being connected to certain mental illnesses? Which other possible causes have been discussed by psychiatrists from the nineteenth century to the beginning of the twenty-first century? What approaches have major psychiatrists adopted towards suicidal patients and threatened suicide? What treatment and preventive strategies have been suggested? First, we compiled a list of the, in our view, most influential textbooks on psychiatry of German-speaking school psychiatry from 1803 until the present. These textbooks were then skim-read for relevant passages on suicidality. The material gained was elicited, classified and analyzed in relation to the questions at hand. Futhermore, an attempt was made to arrive at contextual estimations. Several authors named a certain set of psychiatric illnesses that are assumed to involve or increase the risk of suicide. These illnesses include depression, schizophrenia and also physical illnesses. In nineteenth century textbooks heredity, anatomical anomalies and nationality were discussed as potential influencing factors. In contrast, more recent books discuss models of how suicidal behavior emerges and often refer to the Werther effect. With respect to therapy there is a trend towards therapeutic discussions and modern psychopharmacotherapy. Over time, there have been continuities and changes in psychiatrists' approach to suicidality not only as far as clinical aspects are concerned but also the general approach to and management of suicidal patients.

The eBioKit, a stand-alone educational platform for bioinformatics

PubMed Central

Conesa, Ana; Bongcam-Rudloff, Erik

2017-01-01

Bioinformatics skills have become essential for many research areas; however, the availability of qualified researchers is usually lower than the demand and training to increase the number of able bioinformaticians is an important task for the bioinformatics community. When conducting training or hands-on tutorials, the lack of control over the analysis tools and repositories often results in undesirable situations during training, as unavailable online tools or version conflicts may delay, complicate, or even prevent the successful completion of a training event. The eBioKit is a stand-alone educational platform that hosts numerous tools and databases for bioinformatics research and allows training to take place in a controlled environment. A key advantage of the eBioKit over other existing teaching solutions is that all the required software and databases are locally installed on the system, significantly reducing the dependence on the internet. Furthermore, the architecture of the eBioKit has demonstrated itself to be an excellent balance between portability and performance, not only making the eBioKit an exceptional educational tool but also providing small research groups with a platform to incorporate bioinformatics analysis in their research. As a result, the eBioKit has formed an integral part of training and research performed by a wide variety of universities and organizations such as the Pan African Bioinformatics Network (H3ABioNet) as part of the initiative Human Heredity and Health in Africa (H3Africa), the Southern Africa Network for Biosciences (SAnBio) initiative, the Biosciences eastern and central Africa (BecA) hub, and the International Glossina Genome Initiative. PMID:28910280

The Heritability of Cluster B Personality Disorders Assessed both by Personal Interview and Questionnaire

PubMed Central

Torgersen, Svenn; Myers, John; Reichborn-Kjennerud, Ted; Røysamb, Espen; Kubarych, Thomas S.; Kendler, Kenneth S.

2013-01-01

Whereas the heritability of common personality traits has been firmly established, the results of the few published studies on personality disorders (PDs) are highly divergent, with some studies finding high heredity and others very low. A problem with assessing personality disorders by means of interview is errors connected with interviewer bias. A way to overcome the problem is to use self-report questionnaires in addition to interviews. This study used both interview and questionnaire for assessing DSM-IV Cluster B personality disorders: antisocial personality disorder (APD), borderline (BPD), narcissistic (NPD), and histrionic (HPD). We assessed close to 2,800 twins from the Norwegian Institute of Public Health Twin Panel using a self-report questionnaire and, a few years later, the Structured Interview for DSM-IV Personality (SIDP-IV). Items from the self-report questionnaire that best predicted the PDs captured by the interview were then selected. Measurement models combining questionnaire and interview information were applied and were fitted using Mx. Whereas the heritability of Cluster B PDs assessed by interview was around .30, and around .40–.50 when assessed by self-report questionnaire, the heritability of the convergent latent factor, including information from both interview and self-report questionnaire was .69 for APD, .67 for BPD, .71 for NPD, and .63 for HPD. As is usually found for personality, the effect of shared-in families (familial) environment was zero. In conclusion, when both interview and self-report questionnaire are taken into account, the heritability of Cluster B PD appears to be in the upper range of previous findings for mental disorders. PMID:23281671

The heritability of Cluster B personality disorders assessed both by personal interview and questionnaire.

PubMed

Torgersen, Svenn; Myers, John; Reichborn-Kjennerud, Ted; Røysamb, Espen; Kubarych, Thomas S; Kendler, Kenneth S

2012-12-01

Whereas the heritability of common personality traits has been firmly established, the results of the few published studies on personality disorders (PDs) are highly divergent, with some studies finding high heredity and others very low. A problem with assessing personality disorders by means of interview is errors connected with interviewer bias. A way to overcome the problem is to use self-report questionnaires in addition to interviews. This study used both interview and questionnaire for assessing DSM-IV Cluster B personality disorders: antisocial personality disorder (APD), borderline (BPD), narcissistic (NPD), and histrionic (HPD). We assessed close to 2,800 twins from the Norwegian Institute of Public Health Twin Panel using a self-report questionnaire and, a few years later, the Structured Interview for DSM-IV Personality (SIDP-IV). Items from the self-report questionnaire that best predicted the PDs captured by the interview were then selected. Measurement models combining questionnaire and interview information were applied and were fitted using Mx. Whereas the heritability of Cluster B PDs assessed by interview was around .30, and around .40-.50 when assessed by self-report questionnaire, the heritability of the convergent latent factor, including information from both interview and self-report questionnaire was .69 for APD, .67 for BPD, .71 for NPD, and .63 for HPD. As is usually found for personality, the effect of shared-in families (familial) environment was zero. In conclusion, when both interview and self-report questionnaire are taken into account, the heritability of Cluster B PD appears to be in the upper range of previous findings for mental disorders.

Impact of diet on the immunological microenvironment of the pregnant uterus and its relationship to allergic disease in the offspring--a review of the recent literature.

PubMed

Moore, Daniella Campelo Batalha Cox; Elsas, Pedro Xavier; Maximiano, Elisabeth Santos; Elsas, Maria Ignez Capella Gaspar

2006-09-07

Medical progress has reduced the mortality from infectious diseases in most countries, but allergic diseases have become more prevalent worldwide over the same period, especially in industrialized countries. This has prompted speculation that modern lifestyles have altered the relationship between heredity and environment so as to promote development of an atopic phenotype when exposure to infection decreases. A healthy uterine microenvironment is known to favor Th2 lymphocyte development. However, some evidence suggests that persistence of the Th2 pattern of immunity directs the developing organism's immune response towards a long-lasting atopic phenotype. Even though the outcome also depends on other factors (such as infection, functional state of the intestinal microflora, and exposure to environmental allergens at times critical to development), it seems that the immune system during the perinatal period is responsive to interventions that are no longer effective in adulthood. We have reviewed the literature accessible through Medline to identify recent advances in the prevention of allergic disease through interventions in the fetal-maternal relationship. Diet seems to have a significant impact on the immunological profile of the pregnant uterus, as well as on the postnatal development of allergic disease in the offspring, as suggested by the effects of probiotic bacteria and by manipulations of the dietary content of polyunsaturated fatty acids and antioxidants. This highlights the need for further studies, in order to define the best intervention methods, the most appropriate time interval and the individuals who will most likely benefit from them.

Translational Genomics in Low- and Middle-Income Countries: Opportunities and Challenges.

PubMed

Tekola-Ayele, Fasil; Rotimi, Charles N

2015-01-01

Translation of genomic discoveries into patient care is slowly becoming a reality in developed economies around the world. In contrast, low- and middle-income countries (LMIC) have participated minimally in genomic research for several reasons including the lack of coherent national policies, the limited number of well-trained genomic scientists, poor research infrastructure, and local economic and cultural challenges. Recent initiatives such as the Human Heredity and Health in Africa (H3Africa), the Qatar Genome Project, and the Mexico National Institute of Genomic Medicine (INMEGEN) that aim to address these problems through capacity building and empowerment of local researchers have sparked a paradigm shift. In this short communication, we describe experiences of small-scale medical genetics and translational genomic research programs in LMIC. The lessons drawn from these programs drive home the importance of addressing resource, policy, and sociocultural dynamics to realize the promise of precision medicine driven by genomic science globally. By echoing lessons from a bench-to-community translational genomic research, we advocate that large-scale genomic research projects can be successfully linked with health care programs. To harness the benefits of genomics-led health care, LMIC governments should begin to develop national genomics policies that will address human and technology capacity development within the context of their national economic and sociocultural uniqueness. These policies should encourage international collaboration and promote the link between the public health program and genomics researchers. Finally, we highlight the potential catalytic roles of the global community to foster translational genomics in LMIC. © 2015 S. Karger AG, Basel.

Complexity in modeling of residual stresses and strains during polymerization of bone cement: effects of conversion, constraint, heat transfer, and viscoelastic property changes.

PubMed

Gilbert, Jeremy L

2006-12-15

Aseptic loosening of cemented joint prostheses remains a significant concern in orthopedic biomaterials. One possible contributor to cement loosening is the development of porosity, residual stresses, and local fracture of the cement that may arise from the in-situ polymerization of the cement. In-situ polymerization of acrylic bone cement is a complex set of interacting processes that involve polymerization reactions, heat generation and transfer, full or partial mechanical constraint, evolution of conversion- and temperature-dependent viscoelastic material properties, and thermal and conversion-driven changes in the density of the cement. Interactions between heat transfer and polymerization can lead to polymerization fronts moving through the material. Density changes during polymerization can, in the presence of mechanical constraint, lead to the development of locally high residual strain energy and residual stresses. This study models the interactions during bone cement polymerization and determines how residual stresses develop in cement and incorporates temperature and conversion-dependent viscoelastic behavior. The results show that the presence of polymerization fronts in bone cement result in locally high residual strain energies. A novel heredity integral approach is presented to track residual stresses incorporating conversion and temperature dependent material property changes. Finally, the relative contribution of thermal- and conversion-dependent strains to residual stresses is evaluated and it is found that the conversion-based strains are the major contributor to the overall behavior. This framework provides the basis for understanding the complex development of residual stresses and can be used as the basis for developing more complex models of cement behavior.

[Suicide risk factors in the professional military personnel in the Army of Serbia].

PubMed

Dedić, Gordana; Panić, Milivoje

2010-04-01

Recognition of suicide risk factors is important in taking adequate suicide preventive measures, Suicide Prevention Program for Professional Military Personnel (PMP) implemented in the Army of Serbia in 2003. The aim of our study was to establish suicide risk factors in PMP of the Army of Serbia. Analysis of suicide risk factors in PMP was carried out on the basis of data obtained by psychological suicide autopsy. The controls were demographically similar psychiatric outpatients with no history of suicidal behaviour. A descriptive statistics method was used for risk factors analysis. The t-test was used for testing statistical hypotheses. A total of 30 PMP, aged 22-49 years (30.53 +/- 6.24 on average) committed suicide within the period 1998-2007. Distal suicide risk factors in PMP were considered to be not being married, psychiatric heredity, having no outpatient psychiatric treatment, gambling, regular physical practice (bodybuilding), less transfer to a different post, low motivation for military service (p < 0.001), not having children, parental loss in early childhood, alcohol abuse (p < 0.005), low salary (p < 0.01) uncompleted military school, debts in the family (p < 0.05). The commonest proximal suicide risk factors were: actual family problems (36.6%), actual mental problems (13.3%), burnout (13.3%), negative balance of accounts (13.3%), professional problems (6.7%), behavioral model while for 10.0% PMP suicide risk factors could not be established. According to the presence of multiple suicide risk factors, Suicide Prevention Program for PMP in the Army of Serbia is directed to the prevention of both proximal and distal suicide risk factors.

Primary hyperhidrosis: Implications on symptoms, daily life, health and alcohol consumption when treated with botulinum toxin.

PubMed

Shayesteh, Alexander; Boman, Jens; Janlert, Urban; Brulin, Christine; Nylander, Elisabet

2016-08-01

Primary hyperhidrosis affects approximately 3% of the population and reduces quality of life in affected persons. Few studies have investigated the symptoms of anxiety, depression and hazardous alcohol consumption among those with hyperhidrosis and the effect of treatment with botulinum toxin. The first aim of this study was to investigate the effect of primary hyperhidrosis on mental and physical health, and alcohol consumption. Our second aim was to study whether and how treatment with botulinum toxin changed these effects. One hundred and fourteen patients answered questionnaires regarding hyperhidrosis and symptoms, including hyperhidrosis disease severity scale (HDSS), visual analog scale (VAS) 10-point scale for hyperhidrosis symptoms, hospital anxiety and depression scale (HADS), alcohol use disorder identification test (AUDIT) and short-form health survey (SF-36) before treatment with botulinum toxin and 2 weeks after. The age of onset of hyperhidrosis was on average 13.4 years and 48% described heredity for hyperhidrosis. Significant improvements were noted in patients with axillary and palmar hyperhidrosis regarding mean HDSS, VAS 10-point scale, HADS, SF-36 and sweat-related health problems 2 weeks after treatment with botulinum toxin. Changes in mean AUDIT for all participants were not significant. Primary hyperhidrosis mainly impairs mental rather than physical aspects of life and also interferes with specific daily activities of the affected individuals. Despite this, our patients did not show signs of anxiety, depression or hazardous alcohol consumption. Treatment with botulinum toxin reduced sweat-related problems and led to significant improvements in HDSS, VAS, HADS and SF-36 in our patients. © 2016 Japanese Dermatological Association.

Comparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett Syndrome.

PubMed

Miyake, Kunio; Yang, Chunshu; Minakuchi, Yohei; Ohori, Kenta; Soutome, Masaki; Hirasawa, Takae; Kazuki, Yasuhiro; Adachi, Noboru; Suzuki, Seiko; Itoh, Masayuki; Goto, Yu-Ichi; Andoh, Tomoko; Kurosawa, Hiroshi; Oshimura, Mitsuo; Sasaki, Masayuki; Toyoda, Atsushi; Kubota, Takeo

2013-01-01

Monozygotic (identical) twins have been widely used in genetic studies to determine the relative contributions of heredity and the environment in human diseases. Discordance in disease manifestation between affected monozygotic twins has been attributed to either environmental factors or different patterns of X chromosome inactivation (XCI). However, recent studies have identified genetic and epigenetic differences between monozygotic twins, thereby challenging the accepted experimental model for distinguishing the effects of nature and nurture. Here, we report the genomic and epigenomic sequences in skin fibroblasts of a discordant monozygotic twin pair with Rett syndrome, an X-linked neurodevelopmental disorder characterized by autistic features, epileptic seizures, gait ataxia and stereotypical hand movements. The twins shared the same de novo mutation in exon 4 of the MECP2 gene (G269AfsX288), which was paternal in origin and occurred during spermatogenesis. The XCI patterns in the twins did not differ in lymphocytes, skin fibroblasts, and hair cells (which originate from ectoderm as does neuronal tissue). No reproducible differences were detected between the twins in single nucleotide polymorphisms (SNPs), insertion-deletion polymorphisms (indels), or copy number variations. Differences in DNA methylation between the twins were detected in fibroblasts in the upstream regions of genes involved in brain function and skeletal tissues such as Mohawk Homeobox (MKX), Brain-type Creatine Kinase (CKB), and FYN Tyrosine Kinase Protooncogene (FYN). The level of methylation in these upstream regions was inversely correlated with the level of gene expression. Thus, differences in DNA methylation patterns likely underlie the discordance in Rett phenotypes between the twins.

Knowledge about hereditary cancer of women with family histories of breast, colorectal, or both types of cancer.

PubMed

Campacci, N; de Lima, J O; Ramadan, L; Palmero, E I

2015-03-01

Usually, the mass media do not address hereditary cancer and their risk factors, nor are these topics discussed at the community level. We used an informative guide on cancer and hereditary cancer, followed by a questionnaire on these topics to investigate the relevant knowledge among women at high risk for hereditary breast and/or colorectal cancer from a population-based cohort. The cohort was composed of 81 Brazilian women with positive family histories of breast and/or colorectal cancer. Strauss and Corbin's Grounded Theory was used for qualitative analysis. The average age of the cohort was 49.9 years old. Three participants (3.9%) were illiterate, 45 (59.2%) had attended elementary school, 14 (18.4%) had secondary school, and 14 (18.4%) held higher education degrees. A total of 47 (54.3%) volunteers were unable to fully understand the information provided in the guide because they did not know the meaning of words such as metastasis, malignant, hereditary, sporadic, or oncogenetics. Notwithstanding, the acceptance of the educational tool utilized was satisfactory, and it enhanced the volunteers' interest in a better understanding of cancer and heredity. Thereby, we concluded that the low knowledge of this important subject and the unawareness about fundamental terms required for the comprehension of this specific type of neoplasm made us believe that the use of the informative guide can provide a great value when used previously to the genetic counseling consultations. Besides, educational tools of easy understanding should be part of everyday clinical practice, from primary to specialized patient care.

Toward an understanding of violence: neurobehavioral aspects of unwarranted physical aggression: Aspen Neurobehavioral Conference consensus statement.

PubMed

Filley, C M; Price, B H; Nell, V; Antoinette, T; Morgan, A S; Bresnahan, J F; Pincus, J H; Gelbort, M M; Weissberg, M; Kelly, J P

2001-01-01

Violence is a global problem that poses a major challenge to individuals and society. This document is a consensus statement on neurobehavioral aspects of violence as one approach to its understanding and control. This consensus group was convened under the auspices of the Aspen Neurobehavioral Conference, an annual consensus conference devoted to the understanding of issues related to mind and brain. The conference is supported by the Brain Injury Association and by individual philanthropic contributions. Participants were selected by conference organizers to represent leading opinion in neurology, neuropsychology, psychiatry, trauma surgery, nursing, evolutionary psychology, medical ethics, and law. A literature review of the role of the brain in violent behavior was conducted and combined with expert opinion from the group. The major goal was to survey this field so as to identify major areas of interest that could be targeted for further research. Additional review was secured from the other attendees at the Aspen Neurobehavioral Conference. The group met in the spring of 1998 and 1999 for two 5-day sessions, between which individual assignments were carried out. The consensus statement was prepared after the second meeting, and agreement on the statement was reached by participants after final review of the document. Violence can result from brain dysfunction, although social and evolutionary factors also contribute. Study of the neurobehavioral aspects of violence, particularly frontal lobe dysfunction, altered serotonin metabolism, and the influence of heredity, promises to lead to a deeper understanding of the causes and solution of this urgent problem.

Prostate cancer: The main risk and protective factors-Epigenetic modifications.

PubMed

Adjakly, Mawussi; Ngollo, Marjolaine; Dagdemir, Aslihan; Judes, Gaëlle; Pajon, Amaury; Karsli-Ceppioglu, Seher; Penault-Llorca, Frédérique; Boiteux, Jean-Paul; Bignon, Yves-Jean; Guy, Laurent; Bernard-Gallon, Dominique

2015-02-01

With 13 million new cases worldwide every year, prostate cancer is as a very real public health concern. Prostate cancer is common in over-50s men and the sixth-leading cause of cancer-related death in men worldwide. Like all cancers, prostate cancer is multifactorial - there are non-modifiable risk factors like heredity, ethnicity and geographic location, but also modifiable risk factors such as diet. Diet-cancer linkages have risen to prominence in the last few years, with accruing epidemiological data pointing to between-population incidence differentials in numerous cancers. Indeed, there are correlations between fat-rich diet and risk of hormone-dependent cancers like prostate cancer and breast cancer. Diet is a risk factor for prostate cancer, but certain micronutrients in specific diets are considered protective factors against prostate cancer. Examples include tomato lycopene, green tea epigallocatechin gallate, and soy phytoestrogens. These micronutrients are thought to exert cancer-protective effects via anti-oxidant pathways and inhibition of cell proliferation. Here, we focus in on the effects of phytoestrogens, and chiefly genistein and daidzein, which are the best-researched to date. Soy phytoestrogens are nonsteroid molecules whose structural similarity lends them the ability to mimic the effects of 17ß-estradiol. On top of anti-oxidant effects, there is evidence that soy phytoestrogens can modulate the epigenetic modifications found in prostate cancer. We also studied the impact of phytoestrogens on epigenetic modifications in prostate cancer, with special focus on DNA methylation, miRNA-mediated regulation and histone modifications. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

The influence of childhood abuse, adult stressful life events and temperaments on depressive symptoms in the nonclinical general adult population.

PubMed

Nakai, Yukiei; Inoue, Takeshi; Toda, Hiroyuki; Toyomaki, Atsuhito; Nakato, Yasuya; Nakagawa, Shin; Kitaichi, Yuji; Kameyama, Rie; Hayashishita, Yoshiyuki; Wakatsuki, Yumi; Oba, Koji; Tanabe, Hajime; Kusumi, Ichiro

2014-04-01

Previous studies have shown the interaction between heredity and childhood stress or life events on the pathogenesis of major depression. We hypothesized that childhood abuse, affective temperaments, and adult stressful life events interact and influence depressive symptoms in the general adult population and tested this hypothesis in this study. The 294 participants from the nonclinical general adult population were studied using the following self-administered questionnaire surveys: the Patient Health Questionnaire-9 (PHQ-9), Life Experiences Survey (LES), Temperament Evaluation of the Memphis, Pisa, Paris, and San Diego auto-questionnaire (TEMPS-A), and Child Abuse and Trauma Scale (CATS). The data were analyzed with single and multiple regressions and structural equation modeling (Amos 20.0). Childhood abuse indirectly predicted the severity of the depressive symptoms through affective temperaments measured by TEMPS-A in the structural equation modeling. Four temperaments - depressive, cyclothymic, irritable, and anxious - directly predicted the severity of depressive symptoms and the negative appraisal of life events during the past year. The negative appraisal of life events during the past year mildly, but significantly, predicted the severity of depressive symptoms. The subjects of this study were nonclinical. The findings might not be generalized to patients with mood disorders. This study suggests that childhood abuse, especially neglect, indirectly increased depressive symptoms through increased affective temperaments, which, in turn, increase the negative appraisal of stressful life events. An important role of affective temperaments in the effect of childhood abuse and stressful life events on depressive symptoms was suggested. Copyright © 2014 Elsevier B.V. All rights reserved.

Epigenetic regulation of fetal bone development and placental transfer of nutrients: progress for osteoporosis.

PubMed

Bocheva, Georgeta; Boyadjieva, Nadka

2011-12-01

Osteoporosis is a common age-related disorder and causes acute and long-term disability and economic cost. Many factors influence the accumulation of bone minerals, including heredity, diet, physical activity, gender, endocrine functions, and risk factors such as alcohol, drug abuse, some pharmacological drugs or cigarette smoking. The pathology of bone development during intrauterine life is a factor for osteoporosis. Moreover, the placental transfer of nutrients plays an important role in the building of bones of fetuses. The importance of maternal calcium intake and vitamin D status are highlighted in this review. Various environmental factors including nutrition state or maternal stress may affect the epigenetic state of a number of genes during fetal development of bones. Histone modifications as histone hypomethylation, histone hypermethylation, hypoacetylation, etc. are involved in chromatin remodeling, known to contribute to the epigenetic landscape of chromosomes, and play roles in both fetal bone development and osteoporosis. This review will give an overview of epigenetic modulation of bone development and placental transfer of nutrients. In addition, the data from animal and human studies support the role of epigenetic modulation of calcium and vitamin D in the pathogenesis of osteoporosis. We review the evidence suggesting that various genes are involved in regulation of osteoclast formation and differentiation by osteoblasts and stem cells. Epigenetic changes in growth factors as well as cytokines play a rol in fetal bone development. On balance, the data suggest that there is a link between epigenetic changes in placental transfer of nutrients, including calcium and vitamin D, abnormal intrauterine bone development and pathogenesis of osteoporosis.

ABO blood groups and psychiatric disorders: a Croatian study.

PubMed

Pisk, Sandra Vuk; Vuk, Tomislav; Ivezić, Ena; Jukić, Irena; Bingulac-Popović, Jasna; Filipčić, Igor

2018-02-15

The prevalence of ABO alleles is different in different populations, and many studies have shown a correlation between the occurrences of some diseases and different genotypes of ABO blood groups. The aim of this study was to determine whether there is a significant association between psychiatric syndromes and ABO blood groups. This case-control study involved 156 psychiatric patients and 303 healthy, unrelated, voluntary blood donors. Genomic DNA was isolated from blood on a QIAcube device using a QIAamp DNA Blood mini QIAcube kit. ABO genotyping on five basic ABO alleles was performed using allele-specific polymerase chain reaction analysis. Compared with healthy subjects, a significantly higher proportion of psychiatric patients had AB blood group (χ 2 =9.359, df=3, p=0.025) and, accordingly, a significantly higher incidence of A1B genotype (χ 2 =8.226, df=3, p=0.042). The odds ratio showed that psychiatric disorders occur almost three times more frequently in carriers of AB group compared to other blood groups. However, no statistically significant difference was found in the distribution of ABO blood groups among patients with different psychiatric diagnoses. Likewise, no correlations were found between ABO blood groups and other characteristics of the psychiatric patients (sex, psychiatric heredity, somatic comorbidity, suicidality). The results of this study support the hypothesis of an association between psychiatric disorders and ABO blood groups. The probability is that psychiatric disorders will occur almost three times more frequently in carriers of AB group compared to other ABO blood groups in the Croatian population.

Experimental analysis of nature-nurture interactions.

PubMed

Wyman, Robert J

2005-06-01

The presumed opposition of nature and nurture has been a major concern of western civilization since its beginnings. Christian theologians interpreted Adam and Eve's eating of the forbidden fruit as the origin of an inherited 'original sin'. Saint Augustine explicitly applied the concept to human mental development, arguing that, because of original sin, children are inclined toward evil and education requires physical punishment. For centuries, it was considered parents' moral and religious obligation, not to nurture their children, in our current sense of that word, but to beat the willfulness out of them. 16thC humanists fought back, arguing that "schools have become torture chambers" while it is adults "who corrupt young minds with evil". Locke's (1690) statement that children are born as a 'white paper' was crucial in rejecting the dogma of an inborn (and sinful) nature. The original sin vs. white paper argument merged with another ancient dichotomy: inborn instinct (which controls animal behavior) vs. the reason and free will which humans have. Darwin made the concept of inherited instinct, common to both man and animals, one cornerstone of his theory of evolution. The 20(th)C saw scientists recast the debate as instinct vs. learning, bitterly argued between behaviorists and ethologists. Laboratory experimentation and field observation showed that behavior could develop without learning but also that conditioning paradigms could powerfully mold behavior. The progress of genetics and neurobiology has led to the modern synthesis that neural development, and hence behavior, results from the interdependent action of both heredity and environment. Copyright 2005 Wiley-Liss, Inc.

Toyama Kametaro and Vernon Kellogg: silkworm inheritance experiments in Japan, Siam, and the United States, 1900-1912.

PubMed

Onaga, Lisa

2010-01-01

Japanese agricultural scientist Toyama Kametaro's report about the Mendelian inheritance of silkworm cocoon color in Studies on the Hybridology of Insects (1906) spurred changes in Japanese silk production and thrust Toyama and his work into a scholarly exchange with American entomologist Vernon Kellogg. Toyama's work, based on research conducted in Japan and Siam, came under international scrutiny at a time when analyses of inheritance flourished after the "rediscovery" of Mendel's laws of heredity in 1900. The hybrid silkworm studies in Asia attracted the attention of Kellogg, who was concerned with how experimental biology would be used to study the causes of natural selection. He challenged Toyama's conclusions that Mendelism alone could explain the inheritance patterns of silkworm characters such as cocoon color because they had been subject to hundreds of years of artificial selection, or breeding. This examination of the intersection of Japanese sericulture and American entomology probes how practical differences in scientific interests, societal responsibilities, and silkworm materiality were negotiated throughout the processes of legitimating Mendelian genetics on opposite sides of the Pacific. The ways in which Toyama and Kellogg assigned importance to certain silkworm properties show how conflicting intellectual orientations arose in studies of the same organism. Contestation about Mendelism took place not just on a theoretical level, but the debate was fashioned through each scientist's rationale about the categorization of silkworm breeds and races and what counted as "natural". This further mediated the acceptability of the silkworm not as an experimental organism, but as an appropriately "natural" insect with which to demonstrate laws of inheritance. All these shed light on the challenges that came along with the use of agricultural animals to convincingly articulate new biological principles.

Ultraviolet Radiations: Skin Defense-Damage Mechanism.

PubMed

Mohania, Dheeraj; Chandel, Shikha; Kumar, Parveen; Verma, Vivek; Digvijay, Kumar; Tripathi, Deepika; Choudhury, Khushboo; Mitten, Sandeep Kumar; Shah, Dilip

2017-01-01

UV-radiations are the invisible part of light spectra having a wavelength between visible rays and X-rays. Based on wavelength, UV rays are subdivided into UV-A (320-400 nm), UV-B (280-320 nm) and UV-C (200-280 nm). Ultraviolet rays can have both harmful and beneficial effects. UV-C has the property of ionization thus acting as a strong mutagen, which can cause immune-mediated disease and cancer in adverse cases. Numbers of genetic factors have been identified in human involved in inducing skin cancer from UV-radiations. Certain heredity diseases have been found susceptible to UV-induced skin cancer. UV radiations activate the cutaneous immune system, which led to an inflammatory response by different mechanisms. The first line of defense mechanism against UV radiation is melanin (an epidermal pigment), and UV absorbing pigment of skin, which dissipate UV radiation as heat. Cell surface death receptor (e.g. Fas) of keratinocytes responds to UV-induced injury and elicits apoptosis to avoid malignant transformation. In addition to the formation of photo-dimers in the genome, UV also can induce mutation by generating ROS and nucleotides are highly susceptible to these free radical injuries. Melanocortin 1 receptor (MC1R) has been known to be implicated in different UV-induced damages such as pigmentation, adaptive tanning, and skin cancer. UV-B induces the formation of pre-vitamin D3 in the epidermal layer of skin. UV-induced tans act as a photoprotection by providing a sun protection factor (SPF) of 3-4 and epidermal hyperplasia. There is a need to prevent the harmful effects and harness the useful effects of UV radiations.

Evaluation of the Endorsement of the STrengthening the REporting of Genetic Association Studies (STREGA) Statement on the Reporting Quality of Published Genetic Association Studies

PubMed Central

Nedovic, Darko; Panic, Nikola; Pastorino, Roberta; Ricciardi, Walter; Boccia, Stefania

2016-01-01

The STrengthening the REporting of Genetic Association studies (STREGA) statement was based on the STrengthening the REporting of OBservational studies in Epidemiology (STROBE) statement, and it was published in 2009 in order to improve the reporting of genetic association (GA) studies. Our aim was to evaluate the impact of STREGA endorsement on the quality of reporting of GA studies published in journals in the field of genetics and heredity (GH). Quality of reporting was evaluated by assessing the adherence of papers to the STREGA checklist. After identifying the GH journals that endorsed STREGA in their instructions for authors, we randomly appraised papers published in 2013 from journals endorsing STREGA that published GA studies (Group A); in GH journals that never endorsed STREGA (Group B); in GH journals endorsing STREGA, but in the year preceding its endorsement (Group C); and in the same time period as Group C from GH journals that never endorsed STREGA (Group D). The STREGA statement was referenced in 29 (18.1%) of 160 GH journals, of which 18 (62.1%) journals published GA studies. Among the 18 journals endorsing STREGA, we found a significant increase in the overall adherence to the STREGA checklist over time (A vs C; P < 0.0001). Adherence to the STREGA checklist was significantly higher in journals endorsing STREGA compared to those that did not endorse the statement (A vs B; P = 0.04). No significant improvement was detected in the adherence to STREGA items in journals not endorsing STREGA over time (B vs D; P > 0.05). The endorsement of STREGA resulted in an increase in quality of reporting of GA studies over time, while no similar improvement was reported for journals that never endorsed STREGA. PMID:27349199

French pediatricians' knowledge, attitudes, beliefs towards and practices in the management of weight problems in children.

PubMed

Franc, Carine; Van Gerwen, Maaike; Le Vaillant, Marc; Rosman, Sophia; Pelletier-Fleury, Nathalie

2009-07-01

A representative sample of 611 French pediatricians was interviewed on their knowledge, attitudes, beliefs towards and practices regarding childhood obesity through a 39-item Likert format questionnaire. A vast majority of the respondents regarded obesity as an illness (86.4%), 70.2% were aware that without any treatment an obese child has a high risk to remain obese in adulthood, 84% reported that managing obesity is part of their responsibility in the routine practice and 89.3% affirmed to systematically inform parents of obese children on health risks associated with obesity. At the same time, 82.4% were convinced that managing obesity is bound to fail and only 46.5% that it is professionally gratifying. However, doctors who followed a vocational training dedicated to obesity felt themselves more efficient in managing childhood obesity (p<0.01), those who knew the national recommendations were also less likely to report that the management of childhood obesity leads to a failure (p<0.05). Probably one of the main result of our study concerns doctors' perception of the relative impact of the different etiologic factors of obesity. Beside sedentary life, poor eating behavior, lack of parental concern and heredity which are cited by more than three-fourth of the pediatricians, an economic situation more and more insecure and a food industry increasingly more powerful are reported for the first time by doctors themselves, respectively by 59.9% and 60.8% of them, to kill the goodwill of health professionals. These findings reinforce the idea that the solution to the obesity problem does not lie just within the doctor's office and stress the need for prompt regulatory actions to curb obesity.

‘A Thing Full of Stories’: Traditional healers’ explanations of epilepsy and perspectives on collaboration with biomedical health care in Cape Town

PubMed Central

Keikelame, Mpoe Johannah; Swartz, Leslie

2015-01-01

The experience of epilepsy is profoundly culturally mediated and the meanings attributed to the condition can have a great impact on its social course. This qualitative study used Kleinman’s Explanatory Model framework to explore traditional healers’ perspectives on epilepsy in an urban township in Cape Town, South Africa. The healers who participated in the study were Xhosa-speaking, had experience caring for patients with epilepsy, and had not received any training on epilepsy. Six individual in-depth interviews and one focus group with nine traditional healers were conducted using a semi-structured interview guide. Traditional healers identified several different names referring to epilepsy. They explained epilepsy as a thing inside the body which is recognized by the way it presents itself during an epileptic seizure. According to these healers, epilepsy is difficult to understand because it is not easily detectable. Their biomedical explanations of the cause of epilepsy included, among others, lack of immunizations, child asphyxia, heredity, traumatic birth injuries and dehydration. These healers believed that epilepsy could be caused by amafufunyana (evil spirits) and that biomedical doctors could not treat the supernatural causes of epilepsy. However, the healers believed that western medicines, as well as traditional medicines, could be effective in treating the epileptic seizures. Traditional healers were supportive of collaboration with western-trained practitioners and highlighted that the strategy must have formal agreements in view of protection of intellectual property, accountability and respect of their indigenous knowledge. The findings suggest a need for interventions that promote cultural literacy among mental health practitioners. Research is urgently needed to assess the impact of such collaborations between biomedical services and traditional healers on epilepsy treatment and care. PMID:25680366

Military experience helps setting reasonable personality characteristics but does not alter the criminal behavior-related impression of negative parental experience and alcoholism in a Chinese population.

PubMed

Xu, Hongyu; Ye, Yuqin; Zhang, Xuesi; Hao, Yelu; Shi, Fei; Yuan, Guohao; Wu, Yan; Fei, Zhou; He, Xiaosheng

2016-10-30

Personalities are determined by convergent factors, including physical environment, culture, special experience, and heredity. It has been shown that abuse of substance and alcohol among individuals with personality disorders predict criminality (Glenn and Raine, 2014; Hernandez-Avila et al., 2000). Thus, it is important to clarify the relationship between psychological characteristics and valence of criminal practice, even in the population without substance abuse. Here, we focused on a population with military experience in Shaanxi province of China to screen the psychological characteristics and correlate these characteristics to criminal behaviors. The study population included incarcerated veterans, incarcerated civilians, and three groups of military troops with different lengths of active duty history (<1 month, 1 year, and 2 years). We used the MAST (Michigan Alcoholism Screening Test), EMBU (Egna Minnen av Barndoms Uppfostran), and 16PF (Sixteen Personality Factor Questionnaire) for the screening purpose. Eight hundred seventy-five valid packets of questionnaires were collected during November 2014-January 2015. Comparison of the mean scores was used to evaluate the difference among the five groups. Incarcerated veterans and incarcerated civilians shared the alcohol abuse-relevant characteristics, including negative parental attitudes during their childhood and decreased emotional stability. Compared to the incarcerated civilians, incarcerated veterans scored higher in emotional stability, self-reliance, and perfectionism, but a lower score in apprehension. Personality characteristics associated with criminal behavior of incarcerated veterans seem to be unrelated to their military service per se as evidenced by the control groups. Conversely, military service may benefit the personnel characteristics even in the incarcerated veteran population. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Spore development and nuclear inheritance in arbuscular mycorrhizal fungi

PubMed Central

2011-01-01

Background A conventional tenet of classical genetics is that progeny inherit half their genome from each parent in sexual reproduction instead of the complete genome transferred to each daughter during asexual reproduction. The transmission of hereditary characteristics from parents to their offspring is therefore predictable, although several exceptions are known. Heredity in microorganisms, however, can be very complex, and even unknown as is the case for coenocytic organisms such as Arbuscular Mycorrhizal Fungi (AMF). This group of fungi are plant-root symbionts, ubiquitous in most ecosystems, which reproduce asexually via multinucleate spores for which sexuality has not yet been observed. Results We examined the number of nuclei per spore of four AMF taxa using high Z-resolution live confocal microscopy and found that the number of nuclei was correlated with spore diameter. We show that AMF have the ability, through the establishment of new symbioses, to pass hundreds of nuclei to subsequent generations of multinucleated spores. More importantly, we observed surprising heterogeneity in the number of nuclei among sister spores and show that massive nuclear migration and mitosis are the mechanisms by which AMF spores are formed. We followed spore development of Glomus irregulare from hyphal swelling to spore maturity and found that the spores reached mature size within 30 to 60 days, and that the number of nuclei per spores increased over time. Conclusions We conclude that the spores used for dispersal of AMF contain nuclei with two origins, those that migrate into the spore and those that arise by mitosis in the spore. Therefore, these spores do not represent a stage in the life cycle with a single nucleus, raising the possibility that AMF, unlike all other known eukaryotic organisms, lack the genetic bottleneck of a single-nucleus stage. PMID:21349193

Spore development and nuclear inheritance in arbuscular mycorrhizal fungi.

PubMed

Marleau, Julie; Dalpé, Yolande; St-Arnaud, Marc; Hijri, Mohamed

2011-02-24

A conventional tenet of classical genetics is that progeny inherit half their genome from each parent in sexual reproduction instead of the complete genome transferred to each daughter during asexual reproduction. The transmission of hereditary characteristics from parents to their offspring is therefore predictable, although several exceptions are known. Heredity in microorganisms, however, can be very complex, and even unknown as is the case for coenocytic organisms such as Arbuscular Mycorrhizal Fungi (AMF). This group of fungi are plant-root symbionts, ubiquitous in most ecosystems, which reproduce asexually via multinucleate spores for which sexuality has not yet been observed. We examined the number of nuclei per spore of four AMF taxa using high Z-resolution live confocal microscopy and found that the number of nuclei was correlated with spore diameter. We show that AMF have the ability, through the establishment of new symbioses, to pass hundreds of nuclei to subsequent generations of multinucleated spores. More importantly, we observed surprising heterogeneity in the number of nuclei among sister spores and show that massive nuclear migration and mitosis are the mechanisms by which AMF spores are formed. We followed spore development of Glomus irregulare from hyphal swelling to spore maturity and found that the spores reached mature size within 30 to 60 days, and that the number of nuclei per spores increased over time. We conclude that the spores used for dispersal of AMF contain nuclei with two origins, those that migrate into the spore and those that arise by mitosis in the spore. Therefore, these spores do not represent a stage in the life cycle with a single nucleus, raising the possibility that AMF, unlike all other known eukaryotic organisms, lack the genetic bottleneck of a single-nucleus stage.

A prospective investigation of height and prostate cancer risk.

PubMed

Sequoia, Jacqueline S P; Wright, Margaret E; McCarron, Peter; Pietinen, Pirjo; Taylor, Philip R; Virtamo, Jarmo; Albanes, Demetrius

2006-11-01

Greater adult height, which reflects a combination of early nutrition, exposure to androgens, growth hormones, and other factors during growth and development, as well as heredity, has been associated with increased prostate cancer risk in several observational studies, but findings have been inconsistent. We examined this relationship in the Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study cohort. At baseline, 29,119 Finnish male smokers 50 to 69 years old had height and weight measured by trained personnel, provided information on demographic, smoking, medical, and other characteristics, and completed an extensive diet history questionnaire. A total of 1,346 incident prostate cancer cases were identified during a follow-up period of up to 17.4 years (median, 14.1 years). In age-adjusted Cox proportional hazards models, the hazard ratios and 95% confidence intervals for prostate cancer according to increasing quintiles of height [178 cm] were 1.00 (reference), 1.11 (0.93-1.32), 1.11 (0.95-1.31), 1.30 (1.01-1.55), and 1.14 (0.96-1.35); P(trend) = 0.04. In analyses stratified by disease stage (available for 916 cases), a strong dose-response relationship was observed between greater height and advanced, but not earlier-stage, disease [tumor-node-metastasis stage III-IV, hazard ratio and 95% confidence interval for increasing quintiles of height: 1.77 (1.18-2.65), 1.82 (1.25-2.65), 1.93 (1.29-2.90), and 2.02 (1.37-2.97); P(trend) = 0.0008, P(interaction) = 0.002]. Our study provides additional evidence that increased height is a risk factor for prostate cancer and suggests that taller men are particularly susceptible to advanced disease.

Biological Principles and Threshold Concepts for Understanding Natural Selection. Implications for Developing Visualizations as a Pedagogic Tool

NASA Astrophysics Data System (ADS)

Tibell, Lena A. E.; Harms, Ute

2017-11-01

Modern evolutionary theory is both a central theory and an integrative framework of the life sciences. This is reflected in the common references to evolution in modern science education curricula and contexts. In fact, evolution is a core idea that is supposed to support biology learning by facilitating the organization of relevant knowledge. In addition, evolution can function as a pivotal link between concepts and highlight similarities in the complexity of biological concepts. However, empirical studies in many countries have for decades identified deficiencies in students' scientific understanding of evolution mainly focusing on natural selection. Clearly, there are major obstacles to learning natural selection, and we argue that to overcome them, it is essential to address explicitly the general abstract concepts that underlie the biological processes, e.g., randomness or probability. Hence, we propose a two-dimensional framework for analyzing and structuring teaching of natural selection. The first—purely biological—dimension embraces the three main principles variation, heredity, and selection structured in nine key concepts that form the core idea of natural selection. The second dimension encompasses four so-called thresholds, i.e., general abstract and/or non-perceptual concepts: randomness, probability, spatial scales, and temporal scales. We claim that both of these dimensions must be continuously considered, in tandem, when teaching evolution in order to allow development of a meaningful understanding of the process. Further, we suggest that making the thresholds tangible with the aid of appropriate kinds of visualizations will facilitate grasping of the threshold concepts, and thus, help learners to overcome the difficulties in understanding the central theory of life.

Genome-wide association studies identified novel loci for non-high-density lipoprotein cholesterol and its postprandial lipemic response.

PubMed

An, Ping; Straka, Robert J; Pollin, Toni I; Feitosa, Mary F; Wojczynski, Mary K; Daw, E Warwick; O'Connell, Jeffrey R; Gibson, Quince; Ryan, Kathleen A; Hopkins, Paul N; Tsai, Michael Y; Lai, Chao-Qiang; Province, Michael A; Ordovas, Jose M; Shuldiner, Alan R; Arnett, Donna K; Borecki, Ingrid B

2014-07-01

Non-high-density lipoprotein cholesterol(NHDL) is an independent and superior predictor of CVD risk as compared to low-density lipoprotein alone. It represents a spectrum of atherogenic lipid fractions with possibly a distinct genomic signature. We performed genome-wide association studies (GWAS) to identify loci influencing baseline NHDL and its postprandial lipemic (PPL) response. We carried out GWAS in 4,241 participants of European descent. Our discovery cohort included 928 subjects from the Genetics of Lipid-Lowering Drugs and Diet Network Study. Our replication cohorts included 3,313 subjects from the Heredity and Phenotype Intervention Heart Study and Family Heart Study. A linear mixed model using the kinship matrix was used for association tests. The best association signal was found in a tri-genic region at RHOQ-PIGF-CRIPT for baseline NHDL (lead SNP rs6544903, discovery p = 7e-7, MAF = 2 %; validation p = 6e-4 at 0.1 kb upstream neighboring SNP rs3768725, and 5e-4 at 0.7 kb downstream neighboring SNP rs6733143, MAF = 10 %). The lead and neighboring SNPs were not perfect surrogate proxies to each other (D' = 1, r (2) = 0.003) but they seemed to be partially dependent (likelihood ration test p = 0.04). Other suggestive loci (discovery p < 1e-6) included LOC100419812 and LOC100288337 for baseline NHDL, and LOC100420502 and CDH13 for NHDL PPL response that were not replicated (p > 0.01). The current and first GWAS of NHDL yielded an interesting common variant in RHOQ-PIGF-CRIPT influencing baseline NHDL levels. Another common variant in CDH13 for NHDL response to dietary high-fat intake challenge was also suggested. Further validations for both loci from large independent studies, especially interventional studies, are warranted.

Beliefs about health and diabetes in men of different ethnic origin.

PubMed

Hjelm, Katarina G; Bard, Karin; Nyberg, Per; Apelqvist, Jan

2005-04-01

This paper reports the findings of a study exploring the health and illness beliefs of men with diabetes, who were from different cultural backgrounds and living in Sweden. No studies have been reported that have focused on the beliefs about health and illness in men with diabetes mellitus of different ethnic origin. Beliefs may affect self-care and care-seeking behaviour. An explorative study design and purposive sampling procedure was used. Focus-group interviews were held with 35 men with diabetes and aged between 39 and 78 years. Fourteen participants were born in Arabic countries, 10 in former Yugoslavia and 11 in Sweden. Important factors for health were the ability to be occupied/employed and economically independent and, especially among Arabs and former Yugoslavians, sexual functioning. Swedes focused on heredity, lifestyle and management of diabetes, while non-Swedes claimed the influence of supernatural factors and emotional stress related to the role of being an immigrant and migratory experiences as factors related to development of diabetes and having a negative influence on health. Swedes and Arabs described health as "freedom from disease" in contrast to many former Yugoslavians who described health as "wealth and the most important thing in life". Knowledge about diabetes was limited among the men studied, but Arabs showed an active information-seeking behaviour compared with Swedes and former Yugoslavians. Non-Swedish respondents, particularly Arabs, had sought help from health care professionals to a greater extent than Swedes, who were more likely to use self-care measures. Being occupied/employed and having knowledge about the body and management of diabetes are important for positive health development. There are dissimilarities in beliefs about health and diabetes that influence self-care behaviour and health care seeking. Men's cultural backgrounds and spiritual beliefs need to be considered in diabetes care.

[Revaluation of the concept of developmental abnormality: the importance of faulty perinatal imprinting].

PubMed

Csaba, György

2015-07-12

The classic definition of developmental abnormalities referred to malformations observed at birth. Later the functional teratogenicity was also recognized and accepted, which can be revealed in functional abnormalities caused by harms during the intrauterine development and can be manifested at any time of life. However, the ontogeny is not closed with the birth, because some systems or organs are developing for a long time after it, and can be influenced by different factors. From this aspect the perinatal period is especially important when the mutual adjustment of the receptor-hormone system is taking place and the hormonal imprinting develops. If this is faulty, it influences the hormone binding capacity of receptors that has consequences for life. The faulty hormonal imprinting is functionally teratogen; it provokes a fault up to the level of a malformation and aggravated with its heredity to the progenies. False imprinting is provoked (in animal experiments, proportioning to human doses) by drugs acting at receptor level, as oxytocin, steroid hormone analogues (pregnancy protectors, oral contraceptives, surfactants), vitamin A and D, environmental pollutant endocrine disruptors (benzpyrene, bisphenol A, pesticides, herbicides) and certain soybean components, etc. From this aspect these are functional teratogens, and their evasion in prevention as well as therapy seems to be vital. This means that the concept of developmental abnormality must be broadened, as developmental abnormalities: 1.) can originate not only in the intrauterine period, but also perinatally or even later, 2.) it can be manifested at any time of life, 3.) it can be present in a latent form which can be activated by inner or outer environmental factors, 4.) the faulty hormonal imprinting is a teratogen factor.

Exfoliative cutaneous lupus erythematosus in German shorthaired pointer dogs: disease development, progression and evaluation of three immunomodulatory drugs (ciclosporin, hydroxychloroquine, and adalimumab) in a controlled environment

PubMed Central

Mauldin, Elizabeth A.; Morris, Daniel O.; Brown, Dorothy C.; Casal, Margret L.

2011-01-01

Six German shorthaired pointer dogs (two females, four males) with exfoliative cutaneous lupus erythematosus (ECLE) were studied in a controlled setting until disease progression necessitated euthanasia. During investigations into the heredity of disease, five dogs received immunomodulatory drugs to alleviate clinical signs (lameness, erythema, scaling, erosions/ulcers). One dog served as a control and received only baths and oral fatty acids. Four dogs received ciclosporin (5–10 mg/kg once daily) for 4.5 months to 2 years. Ciclosporin decreased erythema and arthralgia, but did not halt worsening of lesions. Three dogs received hydroxychloroquine (5–10 mg/kg once daily) for 8 weeks, 7 months, and 9 months, respectively, with no side effects. Hydroxychloroquine appeared to slow clinical progression in two dogs on extended treatment and normalized globulin levels in all three dogs while receiving the drug. Four dogs, including the control dog, were euthanized between 1 and 4.5 years of age. Two remaining male dogs received a tumour necrosis factor (TNF)-α antagonist, adalimumab, at 0.5 mg/kg every 2 weeks for 8 weeks then weekly for 8 weeks. Serum TNF-α levels were not significantly altered nor were quantifiable changes seen in skin lesions or lameness. Subsequently, the dogs were maintained on hydroxychloroquine for another year. This is the first study to evaluate the use of a TNF-α inhibitor for canine lupus and the first to address the safety of long-term administration of hydroxychloroquine, albeit in a small number of dogs. The study documents the progression of ECLE and generally poor response to therapy. PMID:20374572

Perceptions and experiences of community members on caring for preterm newborns in rural Mangochi, Malawi: a qualitative study.

PubMed

Gondwe, Austrida; Munthali, Alister C; Ashorn, Per; Ashorn, Ulla

2014-12-02

The number of preterm birth is increasing worldwide, especially in low income countries. Malawi has the highest incidence of preterm birth in the world, currently estimated at 18.1 percent. The aim of this study was to explore the perceived causes of preterm birth, care practices for preterm newborn babies and challenges associated with preterm birth among community members in Mangochi District, southern Malawi. We conducted 14 focus group discussions with the following groups of participants: mothers (n = 4), fathers (n = 6) and grandmothers (n = 4) for 110 participants. We conducted 20 IDIs with mothers to preterm newborns (n = 10), TBAs (n = 6) and traditional healers (n = 4). A discussion guide was used to facilitate the focus group and in-depth interview sessions. Data collection took place between October 2012 and January 2013. We used content analysis to analyze data. Participants mentioned a number of perceptions of preterm birth and these included young and old maternal age, heredity, sexual impurity and maternal illness during pregnancy. Provision of warmth was the most commonly reported component of care for preterm newborns. Participants reported several challenges to caring for preterm newborns such as lack of knowledge on how to provide care, poverty, and the high time burden of care leading to neglect of household, farming and business duties. Women had the main responsibility for caring for preterm newborns. In this community, the reported poor care practices for preterm newborns were associated with poverty and lack of knowledge of how to properly care for these babies at home. Action is needed to address the current care practices for preterm babies among the community members.

Letter to Dr. Felix Bronner

NASA Technical Reports Server (NTRS)

Greenleaf, John E.; Dalton, Bonnie (Technical Monitor)

2002-01-01

Dear Dr. Bronner: I have been reading in The Physiologist the letters from senior physiologists for many years with great interest. It is impressive that many of the respondents are still pursuing scientific endeavours in their 70's and some even in their 80's. The interesting task is to ponder the relative causative proportions of heredity and environment responsible. One wonders whether knowing something about physiology engenders longer and more productive lives? I suspect so because of the accompanying self-discipline. But another factor would seem to be the pervasive joy of working in this profession. I have been fortunate to be able to acquire the joy of physiology during my graduate studies at Illinois, and to have been able to carry it over here at NASA, Ames Research Center for the past 40 years. A truly academic style research environment at a federal research center is rare. The trick to a joyous research career is to overcome those ever-present slings and arrows of outrageous fortune with dignity whenever possible. To that end I have found solace and guidance in reading the history of warfare and its leaders, especially Sun Tsu's The Art of War and Clauswitz's On War. I became eligible for retirement in 1993, but to insure domestic tranquility and also the joy of pursuing my research hobby have continued working in the laboratory on human research. It is troubling to see that funding for individual scientists conducting human research is declining rapidly, along with their new ideas; perhaps the old ones are more comfortable. Hopefully I can provide a similar response when I'm 80! Thanks for your interest. Sincerely, John Greenleaf

The causes of epilepsy: changing concepts of etiology of epilepsy over the past 150 years.

PubMed

Shorvon, Simon D

2011-06-01

This paper provides a survey of the changing concepts of the etiology of epilepsy from 1860 to 2010, focusing on the first two 50-year periods and outlining more briefly major developments in the past 50 years. Among the concepts reviewed in the first 100 years are: the division between predisposing and exciting causes, idiopathic and genuine epilepsy, organic epilepsy, the concept of "cause" being equivalent to "causal mechanism," Russell Reynolds etiological classification, the neurological taint and theories of degeneration, the self-perpetuating nature of seizures, reflex theories of etiology, autointoxication, heredity and eugenics, epilepsy due to brain disorders, the role of EEG and of hippocampal sclerosis, psychological theories of causation, and the multifactorial view of epilepsy etiology. In the past 50 years, the major advances in studying causation in epilepsy have been: clinical biochemistry, neuroimaging, molecular genetics, studies of mechanisms of epilepsy, better statistical methodologies and classification. A number of general observations can be made: the identification of "cause" is not as simple as it might at first appear; progress in the study of causation has been often erratic and travelled up many cul-de-sacs; theories of causation are heavily influenced by societal influences and fashion, and is also heavily dependent on applied methodologies; the recently explored possibility that the underlying inherited mechanisms of epilepsy are shared with other neuropsychiatric conditions is in effect a reinvention of the concept of the neurological trait, and this has ethical and social implications. Considering and classifying cause in terms of causal mechanism, as was suggested by Hughlings Jackson, is an ultimate goal. Wiley Periodicals, Inc. © 2011 International League Against Epilepsy.

Imaging of functional and structural alterations of large arteries after acute ischaemic atherothrombotic stroke or acute coronary syndromes.

PubMed

Barone-Rochette, Gilles; Vanzetto, Gerald; Detante, Olivier; Quesada, Jean-Louis; Hommel, Marc; Mallion, Jean-Michel; Baguet, Jean-Philippe

2014-01-01

Non-invasive methods allow the evaluation of structural and functional arterial abnormalities. So far, no study has focused on the comparison of vascular parameters by type of cardiovascular event. In this pilot study, cardiovascular risk factors, carotid parameters, carotid-to-femoral pulse wave velocity (PWV), brachial flow-mediated dilation and ambulatory blood pressure were assessed in patients who presented with acute coronary syndromes (ACS) or ischaemic atherothrombotic stroke (IAS). Groups were matched for age and gender. Prevalences of hypertension, diabetes and dyslipidaemia and heredity, smoking and body mass index were similar in the ACS (n=50) and IAS (n=50) groups. Carotid intima-media thickness (IMT) and PWV were significantly higher in the IAS vs. ACS group (769±180 vs. 701±136 μm; P=0.039 and 12.5±3.5 vs. 10.7±2.4 m/s; P=0.006). Carotid distensibility was significantly lower in the IAS vs. ACS group (16.2±3.2 vs. 18.9±7.6 10(-3)/kPa; P=0.02). These differences persisted after adjustment for blood pressure for carotid distensibility but not for PWV. The prevalences of endothelial dysfunction and carotid plaques were not significantly different in the ACS and IAS groups (86% and 74%; 80% and 78%). In a multivariable model, carotid distensibility remained associated with ACS (odds ratio 1.19; 95% confidence interval 1.03-1.38; P=0.016). Stiffness and carotid wall thickness were higher in IAS than in ACS patients. These differences may support the interest in new therapeutic targets for cardiovascular secondary prevention. NCT00926874. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Pre-counseling Education for Low Literacy Women at Risk of Hereditary Breast and Ovarian Cancer (HBOC): Patient Experiences Using the Cancer Risk Education Intervention Tool (CREdIT)

PubMed Central

Beattie, Mary S.; Lee, Robin; Braithwaite, Dejana; Wilcox, Carolina; Metrikin, Maya; Lamvik, Kate; Luce, Judith

2010-01-01

The Cancer Risk Education Intervention Tool (CREdIT) is a computer-based (non-interactive) slide presentation designed to educate low-literacy, and ethnically and racially diverse public hospital patients at risk of Hereditary Breast and Ovarian Cancer (HBOC) about genetics. To qualitatively evaluate participants’ experience with and perceptions of a genetic education program as an adjunct to genetic counseling, we conducted direct observations of the intervention, semi-structured in person interviews with 11 women who viewed CREdIT, and post-counseling questionnaires with the two participating genetic counselors. Five themes emerged from the analysis of interviews: (1) genetic counseling and testing for breast/ovarian cancer was a new concept; (2) CREdIT’s story format was particularly appealing; (3) changes in participants’ perceived risk for breast cancer varied; (4) some misunderstandings about individual risk and heredity persisted after CREdIT and counseling; (5) the context for viewing CREdIT shaped responses to the presentation. Observations demonstrated ways to make the information provided in CREdIT and by genetic counselors more consistent. In a post-session counselor questionnaire, counselors’ rating of the patient’s preparedness before the session was significantly higher for patients who viewed CREdIT prior to their appointments than for other patients. This novel educational tool fills a gap in HBOC education by tailoring information to women of lower literacy and diverse ethnic/racial backgrounds. The tool was well received by interview participants and counselors alike. Further study is needed to examine the varied effects of CREdIT on risk perception. In addition, the implementation of CREdIT in diverse clinical settings and the cultural adaptation of CREdIT to specific populations reflect important areas for future work. PMID:20490636

Pre-counseling education for low literacy women at risk of Hereditary Breast and Ovarian Cancer (HBOC): patient experiences using the Cancer Risk Education Intervention Tool (CREdIT).

PubMed

Joseph, Galen; Beattie, Mary S; Lee, Robin; Braithwaite, Dejana; Wilcox, Carolina; Metrikin, Maya; Lamvik, Kate; Luce, Judith

2010-10-01

The Cancer Risk Education Intervention Tool (CREdIT) is a computer-based (non-interactive) slide presentation designed to educate low-literacy, and ethnically and racially diverse public hospital patients at risk of Hereditary Breast and Ovarian Cancer (HBOC) about genetics. To qualitatively evaluate participants' experience with and perceptions of a genetic education program as an adjunct to genetic counseling, we conducted direct observations of the intervention, semi-structured in person interviews with 11 women who viewed CREdIT, and post-counseling questionnaires with the two participating genetic counselors. Five themes emerged from the analysis of interviews: (1) genetic counseling and testing for breast/ovarian cancer was a new concept; (2) CREdIT's story format was particularly appealing; (3) changes in participants' perceived risk for breast cancer varied; (4) some misunderstandings about individual risk and heredity persisted after CREdIT and counseling; (5) the context for viewing CREdIT shaped responses to the presentation. Observations demonstrated ways to make the information provided in CREdIT and by genetic counselors more consistent. In a post-session counselor questionnaire, counselors' rating of the patient's preparedness before the session was significantly higher for patients who viewed CREdIT prior to their appointments than for other patients. This novel educational tool fills a gap in HBOC education by tailoring information to women of lower literacy and diverse ethnic/racial backgrounds. The tool was well received by interview participants and counselors alike. Further study is needed to examine the varied effects of CREdIT on risk perception. In addition, the implementation of CREdIT in diverse clinical settings and the cultural adaptation of CREdIT to specific populations reflect important areas for future work.

H3Africa: current perspectives

PubMed Central

Mulder, Nicola; Abimiku, Alash’le; Adebamowo, Sally N; de Vries, Jantina; Matimba, Alice; Olowoyo, Paul; Ramsay, Michele; Skelton, Michelle; Stein, Dan J

2018-01-01

Precision medicine is being enabled in high-income countries by the growing availability of health data, increasing knowledge of the genetic determinants of disease and variation in response to treatment (pharmacogenomics), and the decreasing costs of data generation, which promote routine application of genomic technologies in the health sector. However, there is uncertainty about the feasibility of applying precision medicine approaches in low- and middle-income countries, due to the lack of population-specific knowledge, skills, and resources. The Human Heredity and Health in Africa (H3Africa) initiative was established to drive new research into the genetic and environmental basis for human diseases of relevance to Africans as well as to build capacity for genomic research on the continent. Precision medicine requires this capacity, in addition to reference data on local populations, and skills to analyze and interpret genomic data from the bedside. The H3Africa consortium is collectively processing samples and data for over 70,000 participants across the continent, accompanied in most cases by rich clinical information on a variety of non-communicable and infectious diseases. These projects are increasingly providing novel insights into the genetic basis of diseases in indigenous populations, insights that have the potential to drive the development of new diagnostics and treatments. The consortium has also invested significant resources into establishing high-quality biorepositories in Africa, a bioinformatic network, and a strong training program that has developed skills in genomic data analysis and interpretation among bioinformaticians, wet-lab researchers, and health-care professionals. Here, we describe the current perspectives of the H3Africa consortium and how it can contribute to making precision medicine in Africa a reality. PMID:29692621

[Etiology and nosology of "rage" and "mania" in the texts of Paracelsus].

PubMed

Korschunow, N

2001-01-01

In this paper etiological and nosological concepts of the Renaissance medico, alchemist, philosopher, and theologist Theophrast von Hohenheim ("Paracelsus" (1493/94-1541)), concerning the "taubsucht [rage, fury]", the "mania", and contextual aspects, are shown. Paradigmatic oscillations between concepts of the present time and the views of Hohenheim are analyzed. Four kinds of "taubsucht" are presented by Hohenheim in his earliest psychopathologically orientated treatise "Von der Taubsucht". Their relations towards later texts are described. He introduces many disorders in later texts, e.g. "mania", "lunatici", "ebricata", "phantasmata", "vihisch vernunft", that resemble aspects of the four kinds of "taubsucht". Three main principles of etiology are documented and characterized as "theological-ethical", "elemental-sidereal", and "alchemistical". Contrary to today's preferred "descriptive" approach the main principle of Paracelsian classification is seen as "etiological-dimensional". Seven etiologic dimensions are described. Hierarchical correspondences between these dimensions are investigated. The seven dimensions are characterized as: a) Elemental influences (incorporation of psychotropic substances) b) Firmamental-sidereal influences (astrological and astronomical emanations) c) Spiritual influences (spirits deranging man's mind) d) Alchemistical ("chemical") influences e) Secondary diseases (caused by some pre-existing disorder) f) Intrinsic ethical and moral dispositions as the final cause of disorders (theological-ethical view) g) Heredity. By evaluating the paradigmatic aspects of Hohenheims nosological approach, differences with today's mainstream-views of psychiatry are seen in the field of "invisible" (spiritual and transcendental), "etiological-dimensional" explanations for the derangement of the mind (see b, c, f). Potential similarities are considered in the field of "visible" (materialistic), dimensions (see a, d, e, g). It is concluded that Hohenheim strives towards an integration of spiritual and materialistic aspects in the application of etiological and nosological tools. Hohenheims concepts are summarized as a 16th century "integrative" psychopathological approach.

Laboratory studies bearing on pigment pattern polymorphisms in wild populations of Rana pipiens.

PubMed

Merrell, D J

1972-01-01

Data are presented for 2,393 progeny from a number of crosses related to a study in ecological genetics of the Burnsi and Kandiyohi polymorphisms in natural populations of the leopard frog, Rana pipiens. No significant differences in viability were found between wild-type homozygotes (+/+) and Burnsi heterozygotes (B/+) or homozygotes (B/B). Similarly, no difference in viability was found between wild-type (+/+) and Kandiyohi heterozygotes (K/+) and homozygotes (K/K). However, there appears to be slight reduction in viability of the double dominant heterozygote (B/+; K/+) in comparison with (+/+), (B/+), and (K/+) progeny from the same cross.-The Kandiyohi heterozygotes (K/+) appeared to have a more rapid rate of development from fertilization through metamorphosis than wild-type (+/+) or Burnsi (B+/) or Burnsi-Kandiyohi heterozygotes (B+K/+). Since Kandiyohi is associated primarily with the prairie habitat (Merrell 1965), this finding suggests that the adaptive advantage of Kandiyohi lies in the more rapid rate of development of frogs carrying this gene, enabling them to complete metamorphosis before the prairie breeding ponds dry up.-Data are presented from crosses involving dorsal spot number. The results suggest that heredity plays a role in the determination of dorsal spot number but that non-genetic influences are also of considerable importance.-The results of these crosses are discussed with respect to their bearing on the formation of pigment patterns in Rana pipiens. From the available data it is clear that the pigment pattern in Rana pipiens is a complex trait influenced by major gene loci, by modifying genes, and by environmental effects. The relative importance of these factors varies depending on the particular combination of genetic and environmental conditions.

The Importance of Seedlings Quality in Timber and Bio-energy Production on marginal lands

NASA Astrophysics Data System (ADS)

Fragkiskakis, Nikitas; Kiourtsis, Fotios; Keramitzis, Dimitrios; Papatheodorou, Ioannis; Georgiadou, Margarita; Repmann, Frank; Gerwin, Werner

2017-04-01

One of the main issues that the forest sector is facing is to achieve a balance between the demand for biomass &wood production and the need to preserve the sustainability and biodiversity of forest ecosystems. The purposes of the new approaches are to ensure more efficient management of ecosystems and implement intensive forestry that will increase biomass production & timber yields. To achieve this, we need to determine the macroeconomic potential of the various options available, including the use of biotechnology and genetics. The success of the forests plantations capacity may be solved through forest certification, based on: a) Stabilization of the forests and soils structure. b) Hierarchy of biomass production in the forest's management process. c) Οrganization and implementation of effective plantation on marginal lands. d) Maintenance or increase of forest productivity by introducing new items as and when they are required. It is important to evaluate of the influence of factors such as the quality of soils of plantation areas, the utilization of the genetic resources and the management of forest operations with the environmental economic criteria such as net present value of benefits (NPV) and the corresponding flow annuities (EACF).The existing evaluations studies showed that the quality of the plantation areas has the most influence and through validated quality seed production can generate an increase in the NPV up to 73%. The importance of seedlings quality in timber and bio-energy production on marginal lands based on the literature it is estimated according to the heredity of the characteristics of the wood structure (except shrinkage). This clearly indicate that seedlings with the appropriate morphological characteristics can significantly improve the growth performance and help to support the development of biomass plantations oriented in tailor-made timber and bio-energy production.

Awareness of Societal Issues Among High School Biology Teachers Teaching Genetics

NASA Astrophysics Data System (ADS)

Lazarowitz, Reuven; Bloch, Ilit

2005-12-01

The purpose of this study was to investigate how aware high school biology teachers are of societal issues (values, moral, ethic, and legal issues) while teaching genetics, genetics engineering, molecular genetics, human heredity, and evolution. The study includes a short historical review of World War II atrocities during the Holocaust when scientists from all the above-mentioned disciplines had been involved in trying to support and develop the eugenics theories. It investigates pre- and postwar theories of the eugenics movement in the United States which were implemented successfully in Germany and a literature survey of the studies of societal issues related to these subjects. The sample consisted of 30 male and female biology teachers. Enclosed are teachers' answers in favor or against including debates about societal issues in their classrooms while teaching the disciplines mentioned above. Teachers' answers were analyzed in relation to three variables: years of teaching experience, gender, and religion faith. Data were collected from questionnaires and personal interviews and analyzed according to qualitative and quantitative methods. The results show that amongst the teachers there is a medium to low level of awareness of societal issues, while mainly emphasizing scientific subjects in preparation of matriculation examinations. The majority of the teachers do not include societal issues in their teaching, but if students raise these issues, teachers claimed to address them. No differences in teachers' opinions to societal issues were found in relation to gender or religious faith. Teachers with more years of teaching experience tend to teach with a more Science, Technology, and Society (STS) approach than novice teachers. The results are discussed in relation to teachers' professional development and teaching strategies are suggested to be used in their classrooms based on a STS approach, which includes the societal issues as a main goal.

Beliefs of people taking antidepressants about the causes of their own depression.

PubMed

Read, John; Cartwright, Claire; Gibson, Kerry; Shiels, Christopher; Magliano, Lorenza

2015-03-15

The beliefs of people receiving treatment about the causes of their own mental health problems are researched less often than the causal beliefs of the public, but have important implications for relationships with prescribers, treatment choices and recovery. An online survey on a range of beliefs about depression, and experiences with antidepressants, was completed by 1829 New Zealand adults prescribed anti-depressants in the preceding five years, 97.4% of whom proceeded to take antidepressants. Six of 17 beliefs about the causes of their own depression were endorsed by more than half the sample: chemical imbalance, family stress, work stress, heredity, relationship problems and distressing events in childhood. There were some marked differences in content, structure and level of conviction of beliefs about one׳s own depression and the sample׳s previously published beliefs about depression in general. There were also significant differences between the beliefs of demographic groupings. Regression analyses revealed that self-reported effectiveness of the antidepressants was positively associated with bio-genetic causal beliefs. The quality of the relationship with the prescribing doctor was positively related to a belief in chemical imbalance as a cause and negatively related to a belief in unemployment as a cause. The convenience sample may have been biased towards a favourable view of bio-genetic explanations, since 83% reported that the medication reduced their depression. People experiencing depression hold complex, multifactorial and idiosyncratic sets of beliefs about the causes of their own depression, apparently based at least in part on their own life experiences and circumstances. Exploring those beliefs may enhance the doctor-patient relationship and selection of appropriate treatment modality. Copyright © 2014 Elsevier B.V. All rights reserved.

Salt sensitivity in normotensives with family history of hypertension: studies of membrane transport, intracellular electrolytes and alpha 2-adrenergic receptors.

PubMed

Skrabal, F; Gruber, G; Meister, B; Ledochowski, M; Doll, P; Lang, F; Cerny, E

1985-12-01

Using long-term automatic blood pressure recording it has previously been shown that subjects with family history of hypertension show a minute fall of blood pressure during sodium restriction, which is reversible by high sodium intake. Thus normotensives with hypertensive antecedents as a group are salt-sensitive, whereas normotensives without heredity of hypertension as a group are salt-resistant. The present study compares intracellular sodium, potassium and calcium, sodium pump activity, NaK-cotransport of red blood cells and density and affinity of alpha 2-adrenergic receptors of platelets in normotensive subjects classified according to family history of hypertension and according to 'salt sensitivity' and 'salt resistance'. Neither the family history of hypertension nor salt sensitivity correlated with intracellular sodium, potassium, calcium, Na-pump activity and NaK-cotransport. Alpha 2-adrenergic density was higher in salt-sensitive than in salt-resistant subjects (P < 0.05) but similar in subjects with a positive and negative family history of hypertension. However, alpha 2-adrenergic receptor density decreased significantly during 2 weeks of moderate salt restriction from 169.6 +/- 34.2 to 142.6 +/- 30.8 (P < 0.01, paired t-test), which may explain the decreased pressor response to infused noradrenaline observed in a previous study during moderate salt restriction. It is concluded that in humans there is no association of genetic predisposition of hypertension or of salt sensitivity to an alteration of sodium pump activity, NaK-cotransport, intracellular sodium and calcium. Alpha 2-receptor density of platelets deserves further study as a possible predictor of salt sensitivity in normotensives.

Hybrid marriages and phenotypic heterosis in offspring: Evidence from China.

PubMed

Zhu, Chen; Zhang, Xiaohui; Zhao, Qiran; Chen, Qihui

2018-05-01

In genetics, heterosis refers to the phenomenon that cross-breeding within species leads to offspring that are genetically fitter than their parents and exhibit improved phenotypic characteristics. Based on the theory of heterosis and existing genetic evidence, offspring of "hybrid" marriages (spouses originating from different states/provinces/countries/areas), though relatively rare due to physical boundaries, may exhibit greater genetic fitness in terms of intelligence, height, or physical attractiveness (the "distance-performance" hypothesis). This study explores whether heterosis is a contributing factor to offspring's educational attainment in China by applying a high-dimensional fixed effects (HDFE) modelling framework to the unique 0.1% micro-sample of the 2000 Chinese Population Census data. Concerning potential endogeneity of hybrid marriages, we conduct a series of robustness checks. Reassuringly, the estimated heterosis effect remains significantly positive across various measurements, after controlling for parental educational attainments/height, environmental influences, and over a thousand region and region-by-year fixed effects. The effects in male and higher-educated offspring are found to be stronger. Results are replicated when analyzing body height using data from the China Health and Nutrition Survey. Although endogeneity of "hybrid marriages" may not be completely ruled out, the current study sheds light on the potentially beneficial effects of interprovincial migration on population-level human capital accumulation, and we hope that this paper can intrigue future studies that further address endogeneity. The implied heterosis effect could, therefore, be profound for Homo sapiens as a species from an evolutionary point of view. An additional important implication is that the overall genetic influences of parents on offspring's performance may be further decomposed into a conventional heredity effect and a heterosis effect that has been neglected previously. Copyright © 2018 Elsevier B.V. All rights reserved.

Acne prevalence and associations with lifestyle: a cross-sectional online survey of adolescents/young adults in 7 European countries.

PubMed

Wolkenstein, P; Machovcová, A; Szepietowski, J C; Tennstedt, D; Veraldi, S; Delarue, A

2018-02-01

Although acne vulgaris is a common skin disorder, limited epidemiological data exist specifically for European populations. To determine the prevalence of self-reported acne among young people in Europe and evaluate the effect of lifestyle on acne. We conducted a cross-sectional population-based online survey in representative samples of individuals aged 15-24 years in Belgium, Czech and Slovak Republics, France, Italy, Poland and Spain (n = 10 521), identified by a quota sampling method based on age, geographic location and socio-professional category. The overall adjusted prevalence of self-reported acne was 57.8% (95% confidence interval 56.9% to 58.7%). The rates per country ranged from 42.2% in Poland to 73.5% in the Czech and Slovak Republics. The prevalence of acne was highest at age 15-17 years and decreased with age. On multivariate analysis, a history of maternal or paternal acne was associated with an increased probability of having acne (odds ratio 3.077, 95% CI 2.743 to 3.451, and 2.700, 95% CI 2.391 to 3.049, respectively; both P < 0.0001), as was the consumption of chocolate (OR 1.276, 95% CI 1.094 to 1.488, for quartile 4 vs. quartile 1). Increasing age (OR 0.728, 95% CI 0.639 to 0.830 for age 21-24 years vs. 15-17 years) and smoking tobacco (OR 0.705, 95% CI 0.616 to 0.807) were associated with a reduced probability of acne. The overall prevalence of self-reported acne was high in adolescents/young adults in the European countries investigated. Heredity was the main risk factor for developing acne. © 2017 European Academy of Dermatology and Venereology.

[Risk factors for adverse course of gastric and duodenal peptic ulcer].

PubMed

Komar, Olena M; Kizlova, Nataliya M; Trylevych, Oleksandra D; Kravchenko, Vasyl V

2018-01-01

Introduction: High morbidity rate, frequent relapses, and significant economic losses give reasons for highlighting the peptic ulcer disease as the most topical medical-statistical problem. The aim of the study is to assess the influence of the main risk factors on the course of gastric and duodenal peptic ulcer. Materials and methods: We formed up the risk groups consisted of patients with 12 modified (4) and regular (8) factors, each characterized with its own signs and gradations. We performed the quantitative evaluation of the factors and scored the signs thereof, the results of which were used for determination of the most informative ones. Results: Among the regular factors, we placed emphasis on gender, age, burdened heredity, and 0(I), Rh+ blood type. The risk of peptic ulcer in hereditary tainted young men of the working age with parental lineage (+2.3) and in males with 0(I) Rh+ blood type (+1.4) was proved. Helicobacter pylori (Hp) infection is a key contributor (a predictor of) to severity of the disease course (+9.7) among the modified risk factors. Negative effect of a concomitant pathology (+5.0), including hepatobiliary lesions (+3.8), hypertension (+4.0), and diabetes mellitus (+1.3) is also significant. Diet violation (+3.7), tobacco smoking (+3.2) and stress (+3.0) were ranked third. Conclusions: The results of quantitative evaluation of the factors scoring suggest of the underlying H.pylori infection (the significance of which is growing along with the growth of the disease incidence) and irrational diet as the most informatively important ones. We have established the direct dependence between the most important peptic ulcer risk factors, severity of the disease, and duration and periodicity of treatment thereof.

The impact of acne vulgaris on quality of life and psychic health in young adolescents in Greece. Results of a population survey*

PubMed Central

Tasoula, Eleni; Gregoriou, Stamatis; Chalikias, John; Lazarou, Dimitris; Danopoulou, Ifigenia; Katsambas, Andreas; Rigopoulos, Dimitris

2012-01-01

BACKGROUND Acne vulgaris can severely affect social and psychological functioning. OBJECTIVE The aim of this study was to investigate the impact of acne vulgaris and its severity on Quality of Life of young adolescents in Greece. METHODS We conducted a questionnaire based survey among 1560 adolescent between the ages of 11 and 19 years old and 1531 of these were completed. Adolescents with acne filled all the questions including the Children Dermatology Life Quality Index. Adolescents without acne filled the questions about age, family history of acne, stress and smoking. Data were analyzed with Pearson Chi Square test. RESULTS Acne prevalence was 51.2% affecting both sexes equally. Self reported mild acne was present in 71.2% and moderate-severe acne in 28.8% of the study population. The mean age of the study population was 15.77y. The median score of Children Dermatology Life Quality Index was 4.02. The impact of acne on quality of life is associated with the severity of the acne (p<0.0001). Patients with moderate/severe acne experience greater psychosocial and emotional impairment (p<0.0001). Body image is modified proportionally to the severity of acne (p<0.0001). Symptoms and treatment of acne are factors that also influence their quality of life. Girls and boys are equally affected. Stress and heredity are correlated with acne and its severity (p<0.0001). We didn't find any correlation between smoking and acne. CONCLUSION Acne affects Quality of Life of young adolescents in Greece. The impact is proportional to the severity of acne. More severe acne is associated with greater effect on quality of life with implications for self esteem, body image and relationships with others. PMID:23197205

Genetic variation of the ghrelin signaling system in females with severe alcohol dependence.

PubMed

Landgren, Sara; Jerlhag, Elisabet; Hallman, Jarmila; Oreland, Lars; Lissner, Lauren; Strandhagen, Elisabeth; Thelle, Dag S; Zetterberg, Henrik; Blennow, Kaj; Engel, Jörgen A

2010-09-01

Central ghrelin signaling is required for the rewarding effects of alcohol in mice. Because ghrelin is implied in other addictive behaviors such as eating disorders and smoking, and because there is co-morbidity between these disorders and alcohol dependence, the ghrelin signaling system could be involved in mediating reward in general. Furthermore, in humans, single nucleotide polymorphisms (SNPs) and haplotypes of the pro-ghrelin gene (GHRL) and the ghrelin receptor gene (GHSR) have previously been associated with increased alcohol consumption and increased body weight. Known gender differences in plasma ghrelin levels prompted us to investigate genetic variation of the ghrelin signaling system in females with severe alcohol dependence (n = 113) and in a selected control sample of female low-consumers of alcohol from a large cohort study in southwest Sweden (n = 212). Six tag SNPs in the GHRL (rs696217, rs3491141, rs4684677, rs35680, rs42451, and rs26802) and four tag SNPs in the GHSR (rs495225, rs2232165, rs572169, and rs2948694) were genotyped in all individuals. We found that one GHRL haplotype was associated with reports of paternal alcohol dependence as well as with reports of withdrawal symptoms in the female alcohol-dependent group. Associations with 2 GHSR haplotypes and smoking were also shown. One of these haplotypes was also negatively associated with BMI in controls, while another haplotype was associated with having the early-onset, more heredity-driven, type 2 form of alcohol dependence in the patient group. Taken together, the genes encoding the ghrelin signaling system cannot be regarded as major susceptibility genes for female alcohol dependence, but is, however, involved in paternal heritability and may affect other reward- and energy-related factors such as smoking and BMI.

Heredity in epilepsy: neurodevelopment, comorbidity, and the neurological trait.

PubMed

Johnson, Michael R; Shorvon, Simon D

2011-11-01

The genetic bases of common, nonmendelian epilepsy have been difficult to elucidate. In this article, we argue for a new approach to genetic inquiry in epilepsy. In the latter part of the 19th century, epilepsy was universally acknowledged to be part of a wider "neurological trait" that included other neuropsychiatric conditions. In recent years, studies of comorbidity have shown clear links between epilepsy and various neuropsychiatric disorders including psychosis and depression, and genetic studies of copy number variants (CNVs) have shown that in some cases, the same CNV underpins neuropsychiatric illness and epilepsy. Functional annotation analysis of the sets of genes impacted by epilepsy CNVs shows enrichment for genes involved with neural development, with gene ontological (GO) categories including "neurological system process" (P=0.006), "synaptic transmission" (P=0.009), and "learning or memory" (P=0.01). These data support the view that epilepsy and some neuropsychiatric conditions share pathogenic neurodevelopmental pathways, and that epilepsy should be included in the spectrum of neurodevelopmental disorders. Yet, most current genetic research in epilepsy has restricted samples to specific types of epilepsy categorized according to the clinical classification schemes on the basis of seizure type, anatomical location, or epilepsy syndrome. These schemes are, to an extent, arbitrary and do not necessarily align with biological reality. We propose an alternative approach that makes no phenotypic assumptions beyond including epilepsy in the neurodevelopmental spectrum. A "'value-free" strategy of reverse phenotyping may be worth exploring, starting with genetic association and looking backward at the phenotype. Finally, it should be noted that there are societal implications to associating epilepsy with other neuropsychiatric disorders, and it is vital to ensure research in this area does not result in increased stigma for patients with epilepsy. Copyright © 2011 Elsevier Inc. All rights reserved.

The fourfold way of the genetic code.

PubMed

Jiménez-Montaño, Miguel Angel

2009-11-01

We describe a compact representation of the genetic code that factorizes the table in quartets. It represents a "least grammar" for the genetic language. It is justified by the Klein-4 group structure of RNA bases and codon doublets. The matrix of the outer product between the column-vector of bases and the corresponding row-vector V(T)=(C G U A), considered as signal vectors, has a block structure consisting of the four cosets of the KxK group of base transformations acting on doublet AA. This matrix, translated into weak/strong (W/S) and purine/pyrimidine (R/Y) nucleotide classes, leads to a code table with mixed and unmixed families in separate regions. A basic difference between them is the non-commuting (R/Y) doublets: AC/CA, GU/UG. We describe the degeneracy in the canonical code and the systematic changes in deviant codes in terms of the divisors of 24, employing modulo multiplication groups. We illustrate binary sub-codes characterizing mutations in the quartets. We introduce a decision-tree to predict the mode of tRNA recognition corresponding to each codon, and compare our result with related findings by Jestin and Soulé [Jestin, J.-L., Soulé, C., 2007. Symmetries by base substitutions in the genetic code predict 2' or 3' aminoacylation of tRNAs. J. Theor. Biol. 247, 391-394], and the rearrangements of the table by Delarue [Delarue, M., 2007. An asymmetric underlying rule in the assignment of codons: possible clue to a quick early evolution of the genetic code via successive binary choices. RNA 13, 161-169] and Rodin and Rodin [Rodin, S.N., Rodin, A.S., 2008. On the origin of the genetic code: signatures of its primordial complementarity in tRNAs and aminoacyl-tRNA synthetases. Heredity 100, 341-355], respectively.

Heredity, pet ownership, and confounding control in a population-based birth cohort.

PubMed

Almqvist, Catarina; Egmar, Ann-Charlotte; van Hage-Hamsten, Marianne; Berglind, Niklas; Pershagen, Göran; Nordvall, S Lennart; Svartengren, Magnus; Hedlin, Gunilla; Wickman, Magnus

2003-04-01

The association between pet ownership in childhood and subsequent allergic disease is controversial. Bias related to selection of pet exposure has been suggested as a reason for contradictory study results. The purpose of this investigation was to elucidate how pet exposure depends on family history of allergic disease, smoking, and socioeconomic factors in a prospective birth cohort. Parents of 4089 two-month-old children answered a questionnaire that included detailed questions about family history of asthma (maternal, paternal, and sibling), rhinoconjunctivitis, atopic eczema/dermatitis syndrome, pollen and pet allergy, smoking habits, parental occupation, and family pet ownership (cat and dog). Dust samples collected from the mothers' beds were analyzed for Fel d 1 and Can f 1 in a subgroup of the cohort. Cats were less frequently kept in families with parental asthma, rhinoconjunctivitis, or pet or pollen allergy (3.5% to 5.8%) than in families without parental allergic disease (10.8% to 11.8%). Dogs were less common in families with (3.3%) than in families without (5.9%) parental atopic eczema/dermatitis syndrome. Families with smoking mothers and those with low socioeconomic index kept cats and dogs more frequently. Cat allergen levels were lower in homes with than in homes without maternal pet allergy, and this tended to hold true even for homes without a cat. Cat ownership decreased from birth to 2 years of age, especially in families with parental history of allergic diseases. There seems to be a selection of pet exposure based on parental history of allergy, maternal smoking, and socioeconomic factors. This has to be taken into consideration in evaluations of risk associations between pet exposure and allergic disease in childhood.