bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Qualitative Investigation of Student and Supervisor Perceptions of Live Supervision in Genetic Counseling
Authors: Hendrickson Susan M. , McCarthy Veach Patricia , LeRoy Bonnie S. 
Published: December 2002

AbstractLive supervision of genetic counseling students is critical for ensuring quality client care and student clinical skill development. However, no research has investigated students' and supervisors' experience of this primary supervision method. In this study, separate focus groups of students and supervisors discussed their perceptions of the nature and impact of live supervision. A modified Consensual Qualitative Research method (Hill et al. (1997) Couns Psychol 25:517–572) was used to analyze the data. Results suggest that live supervision is an essential and effective method that promotes student skill development and professional development for both students and supervisors. There is a lack of formal training regarding supervision; most learning is trial and error. Students worry about being evaluated, and supervisors wonder if they are providing supervision effectively. Both samples emphasized that client care should not be compromised. Participant recommendations for improving live supervision are described, and suggestions are made for future research.
Fabry Disease in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors
Authors: Bennett Robin L. , Hart Kimberly A. , O'Rourke Erin , Barranger John A. , Johnson Jack , MacDermot Kay D. , Pastores Gregory M. , Steiner Robert D. , Thadhani Ravi 
Published: December 2002

AbstractThe objective of this document is to provide health care professionals with recommendations for genetic counseling and testing of individuals with a suspected or confirmed diagnosis of Fabry disease, with a family history of Fabry disease, and those identified as female carriers of Fabry disease. These recommendations are the opinions of a multicenter working group of genetic counselors, medical geneticists, and other health professionals with expertise in Fabry disease counseling, as well as an individual with Fabry disease who is a founder of a Fabry disease patient advocacy group in the United States. The recommendations are U.S. Preventive Task Force Class III, and they are based on clinical experience, a review of pertinent English‐language articles, and reports of expert committees. This document reviews the genetics of Fabry disease, the indications for genetic testing and interpretation of results, psychosocial considerations, and references for professional and patient resources. 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 healthcare provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.
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

AbstractThe 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 of1. providing preconception reproductive options2. improving pregnancy outcome and identifying reproductive choices3. reducing morbidity and mortality in the 1st years of life, and4. 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.
Primary and secondary defects of the mitochondrial respiratory chain
Authors: Schapira A. H. V. 
Published: December 2002

AbstractOver 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.
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

AbstractMore 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

AbstractA 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

AbstractThis 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.
Supercyclone in Orissa: An assessment of psychological status of survivors
Authors: Suar Damodar , Mandal Manas K. , Khuntia R. 
Published: December 2002

AbstractThe 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

AbstractWe 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

AbstractWe 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

AbstractIn 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

AbstractA 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

AbstractA 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

AbstractGenetic 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

AbstractPrevious 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

AbstractAwareness 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.
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

AbstractThirty 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

AbstractThere 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.