bluuebunny/crossref_metadata_2025 huggingface dataset:
Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors
Authors: Bennett Robin L. , Motulsky Arno G. , Bittles Alan , Hudgins Louanne , Uhrich Stefanie , Doyle Debra Lochner , Silvey Kerry , Scott C. Ronald , Cheng Edith , McGillivray Barbara , Steiner Robert D. , Olson Debra
Published: December 2002

The objective of this document is to provide recommendations for genetic counseling and screening for consanguineous couples (related as second cousins or closer) and their offspring with the goals of

1. providing preconception reproductive options

2. improving pregnancy outcome and identifying reproductive choices

3. reducing morbidity and mortality in the 1st years of life, and

4. respecting psychosocial and multicultural issues.

The recommendations are the opinions of a multicenter working group (the Consanguinity Working Group (CWG)) with expertise in genetic counseling, medical genetics, biochemical genetics, genetic epidemiology, pediatrics, perinatology, and public health genetics, which was convened by the National Society of Genetic Counselors (NSGC). The consensus of the CWG and NSGC reviewers is that beyond a thorough medical family history with follow‐up of significant findings, no additional preconception screening is recommended for consanguineous couples. Consanguineous couples should be offered similar genetic screening as suggested for any couple of their ethnic group. During pregnancy, consanguineous couples should be offered maternal–fetal serum marker screening and high‐resolution fetal ultrasonography. Newborns should be screened for impaired hearing and detection of treatable inborn errors of metabolism. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.
Network Modeling for Two-Phase Oscillating Flow by Magnet Control
Authors: Wu Feng , Chen Lingen , Guo Fangzhong , Li Duanyong
Published: December 2002

The network model consisting of series impedance, shunted admittance, current controllable current source and magnet controllable pressure source for two-phase oscillating flow by magnet control is established. The relationship between the output and input of the network is obtained by means of the transmission matrix of the network. The physical significance of the network parameters are revealed.
Primary and secondary defects of the mitochondrial respiratory chain
Authors: Schapira A. H. V.
Published: December 2002

Over 100 mutations of mitochondrial DNA (mtDNA) have been associated with human disease. The phenotypic manifestation of mtDNA mutations is extremely broad, from oligosymptomatic patients with isolated deafness, diabetes, ophthalmoplegia, etc., to complex encephalomyopathic disorders that may include dementia, seizures, ataxia, stroke‐like episodes, etc. The genotype variants are also wide, with rearrangements (deletions, duplications) and point mutations affecting protein coding genes, tRNAs and rRNAs. There are some broad genotype/phenotype correlations but also substantial overlap. The pathogenetic mechanisms involved in the expression of mtDNA mutations are still not yet fully understood. More recently, mutations of nuclear genes encoding subunits of the respiratory chain, particularly those of complex I, have been identified. These predominantly, but not exclusively, involve infant onset disease with early death. Recently it has become clear that the function of the respiratory chain may be impaired by mutations affecting other mitochondrial proteins or as a secondary phenomenon to other intracellular biochemical derangements. Examples include Friedreich ataxia where a mutation of a nuclear encoded protein (frataxin), probably involved in iron homeostasis in mitochondria, results in severe deficiency of the respiratory chain in a pattern indicative of free radical mediated damage. Mutations of nuclear encoded proteins involved in cytochrome oxidase assembly and maintenance have been characterised and, as predicted, are associated with severe deficiency of cytochrome oxidase and, most frequently, Leigh syndrome. Defects of intracellular metabolism, with particularly excess‐free radical generation including nitric oxide or peroxynitrite, may cause secondary damage to the respiratory chain. This is probably of relevance in Huntington disease, motor neuron disease (amyotrophic lateral sclerosis) and Wilson disease. These disorders seem to have defective oxidative phosphorylation as a common pathway in their pathogenesis and it may be that treatments designed to improve respiratory chain function may ameliorate the progression of these disorders.
How Information-Mapping Patterns Determine Foraging Behaviour of a Honey Bee Colony
Authors: Tereshko Valery , Lee Troy
Published: December 2002

We have developed a model of foraging behaviour of a honeybee colony based on reaction-diffusion equations and have studied how mapping the information about the explored environment to the hive determines this behaviour. The model utilizes two dominant components of colony's foraging behaviour — the recruitment to the located nectar sources and the abandonment of them. The recruitment is based upon positive feedback, i.e autocatalytic replication of information about the located source. If every potential forager in the hive, the onlooker, acquires information about all located sources, a common information niche is formed, which leads to the rapid selection of the most profitable nectar source. If the onlookers acquire information about some parts of the environment and slowly learn about the other parts, different information niches where individuals are associated mainly with a particular food source are formed, and the correspondent foraging trails coexist for longer periods. When selected nectar source becomes depleted, the foragers switch over to another, more profitable source. The faster the onlookers learn about the entire environment, the faster that switching occurs.
Longevity genes in the nematode Caenorhabditis elegans also mediate increased resistance to stress and prevent disease
Authors: Johnson T. E. , Henderson S. , Murakami S. , de Castro E. , de Castro S. H. , Cypser J. , Rikke B. , Tedesco P. , Link C.
Published: December 2002

More than 40 single‐gene mutants in Caenorhabditis elegans have been demonstrated to lead to increased lifespan (a rigorous, operational test for being a gerontogene) of 20% or more; these are referred to collectively as ‘Age’ mutants. Age mutants must change key functions that are rate‐limiting determinants of longevity; moreover, important genes can be identified independently of prior hypotheses as to actual mode of gene action in extending longevity and/or ‘slowing’ of ageing. These Age mutants define as many as nine (possibly) distinct pathways and/or modes of action, as defined by primary phenotype. Each of three well‐studied mutants (age‐1, clk‐1, and spe‐26) alters age‐specific mortality rates in a fashion unique to itself. In age‐1 mutants, the decreases in mortality rates are quite dramatic, with an almost tenfold drop in mortality throughout most of life. All Age mutants (so far without exception) increase the ability of the worm to respond to several (but not all) stresses, including heat, UV, and reactive oxidants. We have used directed strategies as well as random mutagenesis to identify novel genes that increase the worm's ability to resist stress. Two genes (daf‐16 and old‐1) are epistatic to the long‐life phenotype of most mutants and also yield over‐expression strains that are stress‐resistant and long‐lived. We have also used a variety of approaches to determine what transcriptional alterations are associated with increased longevity (and with ageing itself), including whole‐genome expression studies using microarrays and GFP reporter constructs. We suggest that the role of the Age genes in both longevity and stress resistance indicates that a major evolutionary determinant of longevity is the ability to respond to stress. In mammals, both dietary restriction and hormesis are phenomena in which the endogenous level of resistance to stress has been upregulated; both of these interventions extend longevity, suggesting possible evolutionary conservation.
The Institutionalization of Community Interventions in Chile: Characteristics and Contradictions
Authors: Krause Mariane
Published: December 2002

A critical analysis of the consequences of successive institutionalization of community intervention in Chile is presented. This analysis is based on research of current community interventions in Chile, whose results are compared with Chilean community practice from previous historical periods. Chilean community intervention was formerly practiced out of governmental institutions and universities and was sustained primarily by foreign agencies and ecclesiastical institutions. Nowadays, with the return to democracy, the vast majority of community intervention programs are financed, partially or totally, by means of governmental resources. This institutionalization of community interventions has had consequences worthy of critical analysis: an increase in the number and stability of intervention programs; and also negative consequences for intervention goals, definition of target groups, and intervention practices. Dilemmas, such as assistance vs. promotion or adaptation vs. social change, have arisen. These dilemmas show the contradictions of a Community Psychology, which has left behind the position of institutional marginality to form part of Chilean society's “normal” psychosocial care. They also show the need for a paradigm shift from a “critical” view of the social world to a constructionist one.
Community, Subjectivity, and Intersubjectivity
Authors: Cronick Karen
Published: December 2002

This paper deals with the notions of “subjectivity,” “intersubjectivity,” and “community” from several different points of view that include subjective and intersubjective agency, a sense of community, the community as a social institution, and the idea of social justice. The context of these considerations can be found in the Community–Social–Psychological approach to social action as it is often practiced in Latin America. A review of these themes is considered important because different models of community intervention and practice may lead to different expressions of community interaction.
Preface
Authors: Skulachev Vladimir P.
Published: December 2002

An Advanced FEBS Course “Mitochondria in the Cell Life and Death” has taken place in Moscow on 2–7 September, 2001. Lecturers from 10 countries presented 19 reports to the 64 participants from 11 countries. In addition to the official participants, many students, postgraduates, and researchers of Moscow State University (MSU) attended the meeting and actively participated in discussions. This was facilitated by the fact that the Course was held in the University campus, namely in the new Laboratory Building B, the construction of which was completed quite recently. Here a novel MSU School of Bioengineering and Bioinformatics is located. The following topics were discussed: mechanisms of energy conservation and dissipation, mitochondria and apoptosis, and mitochondria and diseases. Below the readers can find selected minireviews devoted to regulatory and pathological aspects of these topics.
Supercyclone in Orissa: An assessment of psychological status of survivors
Authors: Suar Damodar , Mandal Manas K. , Khuntia R.
Published: December 2002

The study assessed the impact of the Orissa supercyclone on survivors' locus of control, anxiety, depression, and posttraumatic stress. The study was conducted in structured interview sessions 3 months after the supercyclone. The affected people (n = 65) who were close to the epicenter of supercyclone and lost their family members, relatives, and property, experienced more anxiety, depression, and posttraumatic stress than the unaffected (n = 65) who were away from the epicenter of supercyclone and had not experienced any loss. Effects of exposure remained significant with the effects of sex and neurolicism controlled. External support reduced anxiety and depression, and the amount of loss experienced by the survivors significantly increased external locus of control and anxiety.
Motor vehicle Crash versus Accident: A change in terminology is necessary
Authors: Stewart Alan E. , Lord Janice Harris
Published: December 2002

We assert that motor vehicle erash should replace motor vehicle accident in the clinical and research lexicon of traumatologists. Crash encompasses a wider range of potential causes for vehicular crashes than does the term accident. A majority of fatal crashes are caused by intoxicated, speeding, distracted, or careless drivers and, therefore, are not accidents. Most importantly, characterizing crashes as accidents, when a driver was intoxicated or negligent, may impede the recovery of crash victims by preventing them from assigning blame and working through the emotions related to their trauma.
Mother–Child Separations Among Homeless and Housed Families Receiving Public Assistance in New York City
Authors: Cowal Kirsten , Shinn Marybeth , Weitzman Beth C. , Stojanovic Daniela , Labay Larissa
Published: December 2002

We examined the incidence, characteristics, and predictors of separations of children from mothers in 543 poor families receiving public assistance, 251 of whom had experienced homelessness during the previous 5 years. Forty‐four percent of the homeless mothers and 8% of housed mothers were separated from one or more children. A total of 249 children were separated from 110 homeless families and 34 children from 23 housed families. Children were placed with relatives and in foster care but were rarely returned to their mothers. Maternal drug dependence, domestic violence, and institutionalization predicted separations, but homelessness was the most important predictor, equivalent in size to 1.9 other risk factors. We infer that policies regarding child welfare and substance abuse treatment should be changed to reduce unnecessary placements. Studies of homeless children who remain with families may be biased if separated children are excluded.
DNA‐Sequence Patenting: National Society of Genetic Counselors (NSGC) Position Paper
Authors: McIntosh Nathalie , Braddock Bonnie R. , Branda Kelly J. , Eanet Karen , Goldberg Simon , Kieffer Stephanie A. , Primiano Lisa , Quercia Nada , Taylor Kelly A. , Tsipis Judith , Yashar Beverly M. , Yesley Anne
Published: December 2002

In November 2000, the Genetic Services Committee of the National Society of Genetic Counselors (NSGC) convened a working group to draft a position paper on patenting of DNA‐sequences. The mandate of the group was to produce general position statements that support the perspective and needs of consumers of DNA‐based genetic tests and therapies (our patients and their families) and participants in DNA‐based genetic research. After review and discussion of the literature on DNA‐sequence patenting issues, the working group drafted position statement points that support current United States Patent and Trademark Office (USPTO) guidelines; broad licensing of DNA‐sequence patents; nonenforcement of DNA‐sequence patents in noncommercial research; reasonable royalty rates; an informed consent process for research participants that discloses whether they can share in any financial rewards relating to the project; the development of guidelines for licensing of DNA‐sequence patents; and the establishment of oversight organizations to monitor licensing of DNA‐sequence patents. These position statements were approved by the NSGC Board of Directors in the fall of 2001.
Very long‐chain acyl‐CoA dehydrogenase deficiency in an infant presenting with massive hepatomegaly
Authors: Boles R. G.
Published: December 2002

A 9‐month‐old boy with presented generalised hypotonia, severe cardiomyopathy, and massive liver enlargement following 10 days of viral gastroenteritis. He was diagnosed with very long‐chain acyl‐CoA dehydrogenase deficiency and has been successfully treated.
Sandhoff disease in a golden retriever dog
Authors: Yamato O. , Matsuki N. , Satoh H. , Inaba M. , Ono K. , Yamasaki M. , Maede Y.
Published: December 2002

A golden retriever dog is described with total hexosaminid ase deficiency and raised GM2‐ganglioside in CSF. The animal represents a model for human Sandhoff disease.
Participation in Breast Cancer Genetic Counseling: The Influence of Educational Level, Ethnic Background, and Risk Perception
Authors: Culver Julie , Burke Wylie , Yasui Yutaka , Durfy Sharon , Press Nancy
Published: December 2002

Genetic counseling has been suggested as a means of providing information and support to women with a family history of breast cancer. Yet women who undergo cancer genetic counseling in the United States generally consist of only a subset of those at risk, namely well‐educated, upper‐middle class, European American and Jewish women. We report outcomes from a study that provided a unique opportunity to determine whether women of African American, European American, Native American, or Ashkenazi Jewish ancestry have varying interest in having cancer genetic counseling. The study offered a genetic counseling session to 97 women with a family history of breast cancer who were participating in a larger interview study designed to assess attitudes toward genetic testing for breast cancer. The study offered genetic counseling free of charge to all study participants with a family history of breast cancer, removing the potential barriers of cost, the need for a physician referral, and lack of awareness of genetic counseling. Fifty women out of the 97 women offered genetic counseling (52%) accepted the offer by completing a session. Those who accepted genetic counseling had a higher educational level, a higher perceived risk of breast cancer, and were more likely to expect a positive BRCA1 or BRCA2 genetic test if they were to undergo genetic testing. When controlling for education level, there was no correlation between the participants' ethnic background and acceptance of a genetic counseling session. Outreach efforts to minority populations may increase awareness of the availability of genetic counseling and may facilitate participation by such populations.
The Client's Perspective of Genetic Counseling—A Grounded Theory Study
Authors: Skirton Heather
Published: December 2002

Previous studies of genetic counseling have mainly focused on outcomes defined by researchers or service providers, and have frequently related to changes in reproductive behavior and/or client knowledge. A longitudinal study of 43 families referred to a clinical genetic service was undertaken to ascertain client needs and expectations of the service, and to identify relevant outcomes from the clients' perspective. Semistructured interviews were conducted with each client, prior to and after genetic counseling. The transcribed interviews were analyzed using grounded theory. The need for certainty emerged as a powerful factor that motivated clients to pursue the genetic referral. The client's lay knowledge of the condition, satisfaction of the need for certainty, and the formation of a personalized relationship between the client and the genetics staff significantly influenced the central outcome, identified as a change in the client's psychological adaptation to the genetic condition in the family.
Case Report: Depression vs. Early‐Onset Alzheimer Disease: The Genetic Counselor's Role
Authors: Goldman Jill S.
Published: December 2002

Awareness of depression in the differential diagnosis of Alzheimer disease is essential for genetic counselors seeing patients at risk for early‐onset familial Alzheimer disease (EOFAD). The genetic counselor is in a unique position to recognize depression as the cause of symptoms mimicking early‐onset Alzheimer disease. While generating a family medical history, the counselor can evoke significant emotional history as well. Based on this information, appropriate referrals can be given for neurological and psychological evaluation. The counselor also serves to explain EOFAD and the benefits and limitations of genetic testing for each individual patient. Whether or not patients choose testing, they can benefit from correct diagnosis of troublesome, or even debilitating, symptoms that imitate symptoms of the feared hereditary disease.
Proteins: Paradigms of complexity
Authors: Frauenfelder Hans
Published: December 2002

Proteins are the working machines of living systems. Directed by the DNA, of the order of a few hundred building blocks, selected from 20 different amino acids, are covalently linked into a linear polypeptide chain. In the proper environment, the chain folds into the working protein, often a globule of linear dimensions of a few nanometers. The biologist considers proteins units from which living systems are built. Many physical scientists look at them as systems in which the laws of complexity can be studied better than anywhere else. Some of the results of such studies will be sketched.
Turbulence in nature and in the laboratory
Authors: Warhaft Z.
Published: December 2002

Fluid turbulence has attracted the attention of physicists, mathematicians, and engineers for over 100 years, yet it remains an unsolved problem. The reasons for the difficulties are outlined and recent advances in describing its small-scale statistical structure are described. Contrary to traditional notions, new experimental evidence indicates that the small scales are anisotropic, reflecting the overall character of the flow. The consequences of this finding with regard to the long-held postulate of the universality of the small-scale turbulence structure are discussed.
Entropically driven self-assembly of multichannel rosette nanotubes
Authors: Fenniri Hicham , Deng Bo-Liang , Ribbe Alexander E. , Hallenga Klaas , Jacob Jaby , Thiyagarajan Pappannan
Published: December 2002

Rosette nanotubes are a new class of organic nanotubes obtained through the hierarchical self-assembly of low molecular weight synthetic modules in water. Here we demonstrate that these materials can serve as scaffolds for the supramolecular synthesis of multichannel nanotubular architectures and report on the discovery of their entropy-driven self-assembly process.
Economic agents and markets as emergent phenomena
Authors: Tesfatsion Leigh
Published: December 2002

An overview of recent work in agent-based computational economics is provided, with a stress on the research areas highlighted in the National Academy of Sciences Sackler Colloquium session “Economic Agents and Markets as Emergent Phenomena” held in October 2001.
Computational organization science: A new frontier
Authors: Carley Kathleen M.
Published: December 2002

Synthetic adaptation is the process whereby any entity composed of intelligent, adaptive, and computational agents is also an intelligent, adaptive, and computational agent. Because of synthetic adaptation, organizations, like the agents of which they are composed, are inherently computational. We can gain insight into the behavior of groups, organizations, and societies by using multiagent computational models composed of collections of intelligent adaptive artificial agents. CONSTRUCT-O and ORGAHEAD are examples of such models whose value for social, organizational, and policy analysis lies in the fact that they combine a network (social and knowledge approach) with a multiagent approach to effect more realistic behavior. The results from a series of virtual experiments using these models are examined to illustrate the power of this approach for social, organizational, and policy analysis.
Overcoming design and development challenges in agent-based modeling using
ascape
Authors: Inchiosa Mario E. , Parker Miles T.
Published: December 2002

The
ascape
agent-based modeling environment greatly eases the task of designing and investigating agent-based models. However, effective design can still require a relatively deep knowledge of programming and agent-based modeling. This issue has almost certainly slowed the adoption of agent-based modeling approaches to social science problems. We will discuss how the
ascape
software technology can mitigate this requirement and significantly benefit modelers regardless of programming ability.
A new decision sciences for complex systems
Authors: Lempert Robert J.
Published: December 2002

Models of complex systems can capture much useful information but can be difficult to apply to real-world decision-making because the type of information they contain is often inconsistent with that required for traditional decision analysis. New approaches, which use inductive reasoning over large ensembles of computational experiments, now make possible systematic comparison of alternative policy options using models of complex systems. This article describes Computer-Assisted Reasoning, an approach to decision-making under conditions of deep uncertainty that is ideally suited to applying complex systems to policy analysis. The article demonstrates the approach on the policy problem of global climate change, with a particular focus on the role of technology policies in a robust, adaptive strategy for greenhouse gas abatement.
Segmented nanofibers of spider dragline silk: Atomic force microscopy and single-molecule force spectroscopy
Authors: Oroudjev E. , Soares J. , Arcidiacono S. , Thompson J. B. , Fossey S. A. , Hansma H. G.
Published: December 2002

Despite its remarkable materials properties, the structure of spider dragline silk has remained unsolved. Results from two probe microscopy techniques provide new insights into the structure of spider dragline silk. A soluble synthetic protein from dragline silk spontaneously forms nanofibers, as observed by atomic force microscopy. These nanofibers have a segmented substructure. The segment length and amino acid sequence are consistent with a slab-like shape for individual silk protein molecules. The height and width of nanofiber segments suggest a stacking pattern of slab-like molecules in each nanofiber segment. This stacking pattern produces nano-crystals in an amorphous matrix, as observed previously by NMR and x-ray diffraction of spider dragline silk. The possible importance of nanofiber formation to native silk production is discussed. Force spectra for single molecules of the silk protein demonstrate that this protein unfolds through a number of rupture events, indicating a modular substructure within single silk protein molecules. A minimal unfolding module size is estimated to be around 14 nm, which corresponds to the extended length of a single repeated module, 38 amino acids long. The structure of this spider silk protein is distinctly different from the structures of other proteins that have been analyzed by single-molecule force spectroscopy, and the force spectra show correspondingly novel features.
Qualitative Evaluation of Medical Information Processing Needs of 60 Women Choosing Ovarian Cancer Surveillance or Prophylactic Oophorectomy
Authors: Babb Sheri A. , Swisher Elizabeth M. , Heller Hope N. , Whelan Alison J. , Mutch David G. , Herzog Thomas J. , Rader Janet S.
Published: December 2002

Thirty women who had prophylactic oophorectomy (PO) and thirty women undergoing ovarian cancer surveillance (OCS) completed a one‐time in‐depth telephone interview exploring information gathering and decision‐making processes. There were close similarities between groups, including age, race, marital status, education, menopausal status, number undergoing genetic testing for BRCA mutations, and number of prophylactic mastectomies. The majority of participants indicated overall satisfaction with their final decision. However, many described the information gathering process as frustrating and anxiety provoking. Participants in both groups expressed a need to process medical information within the context of individual psychosocial needs and personal perceptions and experiences. There were recurrent themes with regard to informational and psychosocial needs and personal perceptions and experiences that impacted decision‐making process for these women. The present paper is a companion paper to Swisher et al. (J Repr Med 2001, 46:87–94) with the focus of this paper to illustrate the medical informational processing needs identified by this group of women.
A Survey of Genetic Counselors' Strategies for Addressing Ethical and Professional Challenges in Practice
Authors: Bower Matthew A. , McCarthy Veach Patricia , Bartels Dianne M. , LeRoy Bonnie S.
Published: December 2002

There is limited research about ethical and professional dilemmas that genetic counselors encounter in their practice and their strategies for addressing them. In this study, 454 genetic counselors rated the frequency with which they encounter each of 16 ethical/professional challenges identified and categorized previously (McCarthy Veach P, Bartels DM, LeRoy BS (2001) J Genet Couns 10(2):97–119). Over 40% indicated these issues occurred frequently: patient emotions, diversity, financial constraints, uncertainty, and colleague error. Two hundred and fifty‐five respondents provided personal anecdotes describing exceptionally challenging situations and recommended strategies for addressing them. Most of their anecdotes involved informed consent, value conflicts, confidentiality, colleague error, withholding information, and resource allocation. The most frequently recommended strategies were further discussion with patient, consultation with other professionals, and referral to other health sources. Thirty‐five respondents were unable to/did not offer strategies. Respondent demographics were not related to frequency of issues, type of anecdote, or recommended strategies. Practice, policy, and research implications are discussed.
Molecular gerontology
Authors: Kirkwood T. B. L.
Published: December 2002

Evolutionary theory and empirical evidence from many lines of research suggest that ageing is a process of gradual accumulation of damage in cells and tissues of the body, leading eventually to frailty and increased risk from a spectrum of age‐associated diseases. There are multiple kinds of damage that affect cells, ranging from mutations in DNA to oxidative attack on proteins by chemical by‐products of normal cellular metabolism. In some ways the surprising thing is not that we age, but that we live as long as we do. The key to understanding longevity lies in the network of cell maintenance systems that cooperate to slow the accumulation of damage. Research has shown that long‐lived species carry out cellular maintenance better than short‐lived species, suggesting that enhancement of the body's natural maintenance systems may postpone aspects of ageing. Recognition that ageing results from accumulation of damage also points to a role for lifestyle interventions (e.g. nutrition and exercise) to help prevent damage or promote repair.
On a Possible Physical Metatheory of Consciousness
Authors: Dugić Miroljub , Ćirković Milan M. , Raković Dejan
Published: December 2002

We show that modern quantum mechanics, and particularly the theory of decoherence, allows formulating a sort of a physical metatheory of consciousness. Particularly, the analysis of the necessary conditions for the occurrence of decoherence, along with the hypothesis that consciousness bears (more-or-less) well definable physical origin, leads to a wider physical picture naturally involving consciousness. This can be considered as a sort of a psycho-physical parallelism, but on very wide scales bearing some cosmological relevance.
Ideology and Community Social Psychology: Theoretical Considerations and Practical Implications
Authors: Montenegro Marisela
Published: December 2002

This paper addresses the importance of the concept of ideology in community work. The implications of a Marxist approach to ideology in community practice are analyzed in terms of the concepts of problematization (P. Freire, 1979) and consciousness‐raising (J. Barreiro, 1976), illustrating the point with some examples. The traditional Marxist perspective is also examined in relation to the perspectives of social constructionism (I. Ibáñez, 1996), cultural studies (A. McRobbie, 1992), post‐Marxism (E. Laclau & C. Mouffe, 1985), and feminism (D. Haraway, 1991). It is argued that the concepts of hegemony and habitus (P. Bourdieu, 1985) can be useful to community social psychology theory and practice. A “situated perspective”—in which it is possible to dialogue from different “subject positions,” and articulate transformation and political action—is argued. The implications of this shifting in the concept of ideology by means of theoretical developments outside social community psychology can help to define the external (outside) agent's position in community practice.
On the Construction of Reality and Truth. Towards an Epistemology of Community Social Psychology
Authors: Montero Maritza
Published: December 2002

An expression of community social psychology based on the need to transform social reality, and to consider people as the constructors of that reality, is examined from an epistemological point of view. Dualism, the position considering that object and subject are separate entities, and monism, the perspective stating that there is only one substance, are discussed. The consequences of both conceptions for community social psychology, and their incompatibility, as well as the notions of reality and truth are analyzed. That analysis deals with the problems of defining reality, of separating subject and object of knowledge, of language's role, and of relativism and truth. Finally, a constructionist view of monism based on relatedness, and action, is proposed, stating the mutually influencing union of subject and object in the construction of reality.
Mitochondrial Dysfunction in Sepsis: Evidence from Bacteraemic Baboons and Endotoxaemic Rabbits
Authors: Gellerich Frank Norbert , Trumbeckaite Sonata , Opalka Jens Rüdiger , Gellerich Johannes Frank , Chen Ying , Zierz Stephan , Werdan Karl , Neuhof Christiane , Redl Heinz
Published: December 2002

Mitochondria, that provide most of the ATP needed for cell work, and that play numerous specific functions in biosyntheses and degradations, as well as contributing to Ca2+; signaling, also play a key role in the pathway to cell death. Impairment of mitochondrial functions caused by mutations of mt-genome, and by acute processes, are responsible for numerous diseases.

The involvement of impaired mitochondria in the pathogenesis of sepsis is discussed. By means of the skinned fiber technique and high resolution respirometry, we have detected significantly reduced rates of mitochondrial respiration in heart and skeletal muscle of endotoxaemic rabbits. Mitochondria from heart were more affected than those from skeletal muscle. Decreased respiration rates were accompanied by reduced activities of complex I+III of the respiratory chain. Endotoxin-caused impairment was also detectable at the level of the Langendorff perfused heart, where the coronary vascular resistance was significantly increased.

For an investigation of the influence of bacteraemia on the mitochondrial respiratory chain, baboons were made septic by infusion of high and low amounts of E. coli. For complex I+III and II+III, a clear dose-dependent decrease was detectable and in animals which died in septic shock, a further decrease of enzyme activities in comparison to the controls were found.

These results are discussed in the light of current knowledge on the role of mitochondria in cell pathology in respect to sepsis.

In conclusion, we present evidence that mitochondrial function is disturbed during sepsis. Besides ischaemic and poison-induced disturbances of mitochondrial function, sepsis is a further example of an acute disease where impaired mitochondria have to be taken into account.
Rat Hindlimb Unloading: Soleus and Extensor Digitorum Longus Histochemistry, Mitochondrial DNA Content and Mitochondrial DNA Deletions
Authors: Pesce V. , Cormio A. , Fracasso F. , Lezza A. M. S. , Cantatore P. , Gadaleta M. N.
Published: December 2002

Mitochondrial phenotypic alterations, mitochondrial DNA content and mitochondrial DNA deletions in a slow, Soleus, and a fast, Extensor Digitorum Longus, skeletal muscle of 3- and 15-month-old hindlimb suspended rats have been studied. Cytochrome c oxidase-negative fibers appeared after unloading in all examined animals and their percentage increased with increasing unloading time. After 14 days of suspension the mitochondrial DNA content did not change in 3-month-old but decreased significantly in 15-month-old rats. Soleus was much more affected by unloading than Extensor Digitorum Longus. The mitochondrial DNA deletion of 4834 bp as well as other mtDNA deletions, researched with Long Distance-PCR, were absent in both studied muscles before and after unloading.
An evaluation of patient satisfaction with an information leaflet for trauma survivors
Authors: Robertson Carol , Klein Susan , Bullen Heather , Alexander David A.
Published: December 2002

A new leaflet that provided information about posttraumatic reactions and how to deal with them was distributed within 14 days of attendance at the Accident and Emergency Department (ED), Aberdeen Royal Infirmary, to a heterogeneous sample of trauma patients (N = 222). An evaluation form to assess satisfaction with the leaflet was also mailed with the leaflet. A sample of 98 (44%) of the initial patient group responded, and 96% of them reported the leaflet as either very helpful or helpful. Satisfaction with the leaflet was not affected by age, by gender, or by the type of trauma encountered. Overall, the findings confirmed that such a leaflet is well received by trauma patients attending an ED.
Acculturation and Adaptation of Soviet Jewish Refugee Adolescents: Predictors of Adjustment Across Life Domains
Authors: Birman Dina , Trickett Edison J. , Vinokurov Andrey
Published: December 2002

This study explores how acculturation is related to adaptation across different life spheres for 162 Soviet Jewish refugee adolescents in a suburban community in Maryland. Because the different contexts of refugee adolescents' lives vary in acculturative demands, different patterns of acculturation should be related to adaptation in different life spheres. The study uses a multidimensional measure of acculturation and assesses acculturation to both American and Russian cultures as it relates to psychological adaptation, peer relations, and school and family outcomes. Findings support the general ecological thesis that acculturation to different cultures is differentially related to adaptation across life domains. Acculturation to American culture predicted better grades and perceived support from American peers. Acculturation to Russian culture predicted perceived support from Russian peers. Both American acculturation and Russian acculturation predicted reduced loneliness and perceived support from parents. Further, different dimensions of acculturation, such as language and identity, were differentially related to adaptation. Implications for acculturation theory and measurement are drawn, and cautions are offered about the interpretation of acculturation studies using single proxies such as language use or preference.
“People Say It's a Little Uncomfortable”: Prenatal Genetic Counselors' Use of Constructed Dialogue to Reference Procedural Pain
Authors: Gordon Cynthia , Prince Michele B. , Benkendorf Judith L. , Hamilton Heidi E.
Published: December 2002

Prenatal genetic counseling involves an exchange of information between counselors and clients, including verbal descriptions of the potential pain of invasive prenatal diagnosis procedures such as amniocentesis. This paper describes the use of one linguistic feature in one context. It considers how two counselors describe procedural pain in 17 prenatal genetic counseling sessions, audiotaped as part of a larger data‐driven study using sociolinguistic methodologies to characterize the discourse of genetic counseling. Analysis reveals that “constructed dialogue,” or reporting something another person said, is a strategy used frequently by the counselors for describing procedural pain. Examination of the content and form of the constructed dialogue uncovered three recurring patterns that relate to its functions in the sessions: (1) inclusion of colloquial vocabulary; (2) references to common experiences through similes; and (3) explicit downplaying of pain. This analysis suggests that the naturally occurring phenomenon of quoting the words of others can be used in genetic counseling to impart information while simultaneously reassuring the client and creating counselor–client rapport. The complex relationship between the use of constructed dialogue and the enactment of genetic counseling principles through talk is also discussed.
A Multiple Case Study of Rape Victim Advocates' Self‐Care Routines: The Influence of Organizational Context
Authors: Wasco Sharon M. , Campbell Rebecca , Clark Marcia
Published: December 2002

This study assumes that rape victim advocates who provide community outreach services to victimized women must adjust to a heightened awareness of sexual violence to do their jobs. Using qualitative methodology, this multiple case study explored rape victim advocates' strategies for incorporating repeated exposure to sexual assault into their daily lives as well as ways that organizations can support such endeavors. Findings suggest that advocates' self‐care routines draw upon various personal resources (i.e., cognitive, physical, social, spiritual, verbal), and serve 2 roles for coping with rape‐related pain: (a) cathartic releasing of traumatic material, and (b) improving capacity to integrate the traumatic material into one's life. Additionally, over 20 organizational characteristics that workers perceive to be supportive (e.g., weekly meetings, flexible hours) were identified. Nonparametric and categorical statistical analyses were used to analyze the relationship between organizational support and self‐care routines, finding that advocates working in organizations with higher levels of support utilize more strategies that are integrative in nature. Implications of these findings are discussed.
Reproductive fitness in maternal homocystinuria due to cystathionine β‐synthase deficiency
Authors: Levy H. L. , Vargas J. E. , Waisbren S. E. , Kurczynski T. W. , Roeder E. R. , Schwartz R. S. , Rosengren S. , Prasad C. , Greenberg C. R. , Gilfix B. M. , MacGregor D. , Shih V. E. , Bao L. , Kraus J. P.
Published: December 2002

Early diagnosis and improved treatment are leading to the potential for increased reproductive capability in homocystinuria due to cystathionine β‐synthase (CβS) deficiency, but information about reproductive outcome and risk of thromboembolism in pregnancy is limited. To provide further information, clinical and biochemical information was obtained on women with maternal homocystinuria, on their pregnancies and on the offspring. This information included blood sulphur amino acids and total homocysteine, CβS gene mutations and developmental and cognitive scores in the offspring. The study involved 15 pregnancies in 11 women, of whom 5 were pyridoxine‐nonresponsive and 6 were pyridoxine‐responsive. Complications of pregnancy included pre‐eclampsia at term in two pregnancies and superficial venous thrombosis of the leg in a third pregnancy. One pregnancy was terminated and two pregnancies resulted in first‐trimester spontaneous abortions. The remaining 12 pregnancies produced live‐born infants with normal or above‐normal birth measurements. One offspring has multiple congenital anomalies that include colobomas of the iris and choroid, neural tube defect and undescended testes. He is also mentally retarded and autistic. A second offspring has Beckwith–Wiedemann syndrome. The remaining 10 offspring were normal at birth and have remained normal. There was no relationship between the severity of the biochemical abnormalities or the therapies during pregnancy to either the pregnancy complications or the offspring outcomes. The infrequent occurrences of pregnancy complications, offspring abnormalities and maternal thromboembolic events in this series suggest that pregnancy and outcome in maternal homocystinuria are usually normal. Nevertheless, a cautious approach would include careful monitoring of these pregnancies with attention to metabolic therapy and possibly anticoagulation.
Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening
Authors: Funghini S. , Donati M.A. , Pasquini E. , Gasperini S. , Ciani F. , Morrone A. , Zammarchi E.
Published: December 2002

Mutation analysis performed on DNA from 6 Italian patients with partial biotinidase deficiency ascertained by newborn screening allowed the identification of two new mutations, c1211C>T (T404I) and a single base deletion c594delC. All patients were compound heterozygous for the D444H amino acid substitution showing that this mutation is also common in Italian patients affected by partial biotinidase deficiency.
A molecular, enzymatic and clinical study in a family with hereditary coproporphyria
Authors: Gross U. , Puy H. , Meissauer U. , Lamoril J. , Deybach J. C. , Doss M. , Nordmann Y. , Doss M. O.
Published: December 2002

A 30‐year‐old woman suffered from acute crises with abdominal, neurological and psychiatric complaints. Urinary haem precursors and faecal porphyrins were excessively elevated compared to the upper level of the normal range. Urinary coproporphyrin isomer III was increased and faecal copro‐porphyrin isomers I and III showed a complete inversion of the normal ratio. Thus, hereditary coproporphyria was diagnosed in this woman. The father, one brother and a sister were shown to be gene carriers of hereditary copro‐ porphyria by their urinary and faecal excretory constellations. The excretory patterns of the mother and a second brother were normal. Coproporphyrinogen oxidase activity was decreased to 49% and 58% in the patient and her father, respectively. The mother's enzyme activity was normal (98%). Copro‐porphyrinogen oxidase concentration was enhanced 1.8‐fold and 2.7‐fold in the patient and her father, respectively. Mutation analysis revealed the insertion of an adenine at position 857 in exon 4 of the coproporphyrinogen oxidase gene. The gene defect was confirmed by denaturing gradient gel electrophoresis in the patient and her father. The patient was treated by intravenous interval therapy with haem arginate for 10 months, with good clinical and metabolic response.
Across the Spectrum: Case Studies in Genetic Counseling for Breast and Ovarian Cancer
Authors: DeMarco Tiffani A. , Peshkin Beth N. , Brogan Barbara M.
Published: December 2002

We present three vignettes based on participants counseled as part of a clinical research program. These include a young unaffected woman at risk for a familial mutation, a newly diagnosed breast cancer patient, and a woman with recurrent ovarian cancer. Through the use of detailed vignettes, multifaceted issues that arise in cancer genetic counseling are highlighted.