bluuebunny/crossref_metadata_2025_split huggingface dataset:
DNA damage and its processing. Relation to human disease
Authors: Bohr V. A. 
Published: December 2002

AbstractWe are constantly exposed to sources of agents that directly damage the genetic material. This exposure comes from environmental sources but also from within our own organisms. DNA damage occurs at a high frequency due to metabolic processes and environmental factors such as various exposures and the intake of food and drugs. The stability and correct function of the DNA is necessary for normal cellular functions and there is good evidence that damage to the DNA can lead to cellular dysfunction, cancer and other diseases, or cell death. To avoid or minimize the damage to DNA we have evolved an elaborate set of DNA repair pathways that survey the DNA and fix the errors. There are several human diseases that are known to be defective in these repair pathways, and the accumulation of DNA damage with time in their genome may then be the cause of the associated high incidence of cancer or of an expedited ageing process. The prevention and/or repair of DNA damage thus represent major concerns in biology and medicine.
Tetrahydrobiopterin responsiveness in a large series of phenylke tonuria patients
Authors: Weglage J. , Grenzebach M. , Teeffelen‐Heithoff A. v. , Marquardt T. , Feldmann R. , Denecke J. , Gödde D. , Koch H. G. 
Published: December 2002

AbstractIn a group of 87 consecutive patients with hyperphenylalaninaemia born since 1990, only 3 patients showed a (temporary) decrease of serum phenylalanine levels after tetrahydrobiopterin (BH4) loading in usual doses (20 mg/kg body weight).
A novel Y243S mutation in the pyruvate dehydrogenase E1 alpha gene subunit: Correlation with thiamine pyrophosphate interaction
Authors: Benelli C. , Fouque F. , Redonnet‐Vernhet I. , Malgat M. , Fontan D. , Marsac C. , Dey R. 
Published: December 2002

AbstractWe identified a new Y243S mutation in the X‐linked E1 α‐PDH gene in a patient with pyruvate dehydrogenase complex (PDHc) deficiency. The activity in cultured fibroblasts was very low even in the presence of high thiamine pyrophosphate (TPP) concentrations, indicating that the defect could be due to decreased affinity of PDHc for TPP.
Writing Effective Insurance Justification Letters for Cancer Genetic Testing: A Streamlined Approach
Authors: Shappell Heather L. , Matloff Ellen T. 
Published: December 2002

AbstractThe topic of insurance coverage and justification letters for cancer predisposition testing has been the subject of much discussion on the National Society of Genetic Counselors Cancer Special Interest Group (NSGC Cancer‐SIG) listserv. Some counselors have stated that they have had difficulty in obtaining insurance coverage for their patients, while others have indicated that they would appreciate seeing examples of successful letters. The purpose of this paper is to provide practical guidance in writing successful letters of justification and to share insurance success stories in the area of cancer genetic testing.
Incorporating a Psychological Counselor in a Cancer Risk Assessment Program: Necessity, Acceptability, and Potential Roles
Authors: Matthews Alicia K. , Brandenburg Dana L. , Cummings Shelly , Olopade Olufunmilayo I. 
Published: December 2002

AbstractEvidence suggests that cancer risk assessment may be associated with increased psychological distress. This exploratory study assessed the necessity and acceptability of incorporating psychological counseling into routine clinic procedures at a cancer risk program. Following a visit to a university‐based cancer risk clinic, patients (N = 102) completed an anonymous self‐report instrument. Participants reported experiencing current stress and anxiety (41%), depression (29%), and suicidal ideation (2%). Patients with a history of cancer were more likely to be experiencing current emotional difficulties. Sixty‐nine percent of the participants found the visit with the psychological counselor to be helpful, while 41% of the participants reported interest in follow‐up psychological services. Interest in receiving future psychological services was positively correlated with levels of anxiety, depression, and cancer worry. This pilot study demonstrates the acceptability and potential role for psychological counselors in increasing adjustment in high‐risk patients undergoing genetic counseling for inherited cancers.
The Inner World of the Genetic Counselor
Authors: Abrams Liane J. , Kessler Seymour 
Published: December 2002

AbstractThe external experience of genetic counselors reflects and is processed in their personal inner worlds. A small window into that private interior is opened here revealing the strengths and frailties, vulnerabilities and sensitivities professionals bring to bear in their work. The relational, human interplay—between counselor and colleagues, counselor and clients, counselors in their nonprofessional roles relative to others—is the primary focus of the interior experience.
Determining Complex Genetic Risks by Computer
Authors: Flodman Pamela , Hodge Susan E. 
Published: December 2002

AbstractGenetic risk analysis is a frequent and important responsibility for genetic counselors. Computer‐based methods of determining risk are available but not generally used. In this paper, we present a computer‐based likelihood approach for performing risk calculations (including Bayesian analysis), and the implementation of this approach using the CYRILLIC and LINKAGE computer packages. Several concrete examples are given, and caveats (which can also be applied to other programs for risk calculation) are discussed.
Models of Genetic Counseling and Their Effects on Multicultural Genetic Counseling
Authors: Lewis Linwood J. 
Published: December 2002

AbstractThis theoretical paper examines challenges to multicultural genetic counseling, counseling between culturally different clients and counselors, in the context of Kessler's typology of models of genetic counseling (Kessler S (1997) J Genet Counsel 6:287–295). It is suggested that challenges such as resistance to multicultural genetic counseling education may be due to conceptions about genetic counseling as a biomedical field that transcends questions of culture as well as lack of multicultural training or prejudice. Directions for future research and recommendations for multicultural genetic counseling education are briefly explored.
Komrower Lecture: New names for old disciplines
Authors: Galjaard H. 
Published: December 2002

AbstractSince the completion of the human genome map, genomics, proteomics and pharmacogenomics have become popular headings. In this review some 40 years of development in research and laboratory diagnosis of inborn errors of metabolism are summarized. It is shown that collaborative approaches of clinicians, geneticists, pathologists, biochemists and molecular biologists have contributed significantly to the (prenatal) diagnosis, genetic counselling and prevention of simple gene disorders, and in some instances to successful treatment. DNA technology widens the range to predictive risk testing for multifactorial disorders manifesting in adulthood. This offers new perspectives for potential patients and their close relatives, but also poses new psychosocial and ethical problems.Despite high expectations of new technologies in the development of new medicines for multifactorial disorders, examples of previous studies on the molecular etiology and pathogenesis of monogenic diseases indicate that a long way is ahead of us. Also the treatment of rare disorders and equal access to cure and care in the Third World need great attention.
The Human Genome Project and the future of diagnostics, treatment and prevention
Authors: van Ommen G.‐J. B. 
Published: December 2002

AbstractThe Human Genome Project, the mapping of our 30 00–50 000 genes and the sequencing of all of our DNA, will have major impact on biomedical research and the whole of therapeutic and preventive health care. The tracing of genetic diseases to their molecular causes is rapidly expanding diagnostic and preventive options. The increased insights into molecular pathways, gained from high‐throughput ‘functional genomics’, using DNA‐chip and protein‐chip approaches and specially designed animal model systems, will open great prospects for pharmacological and genetic therapies. Powerful bioinformatics and biostatistics will further improve our pattern recognition and accelerate progress. A rapidly expanding area of high expectations is that of ‘pharmacogenomics’: the design of more effective drugs with lower toxicity through tailoring of drug treatment to individual, genetically determined differences in drug metabolism. Not only will this decrease the cost of health care through reduction of adverse drug reactions, but a better stratification of populations will also provide more statistical power farther upstream in drug trials. However, the optimal benefits from the current explosion of ‘data mining’ will only be realized when the basic data are made and kept publicly accessible, while at the same time safeguarding the protection of intellectual property arising from downstream inventions. This is one of the goals of HUGO, the international Human Genome Organization, established 13 years ago to assist coordination of data acquisition and exchange and societal implementation of the genome project. Additional points of attention in this historic endeavour are the prevention of stigmatization and discrimination and the safeguarding of a worldwide balance in the contribution by — and benefits to — different populations, while respecting the diversity in cultures and traditions.
The Evolution of Epistemology and Concepts in an Iterative‐Generative Reflective Practice: The Importance of Small Differences
Authors: Bishop Brian J. , Sonn Christopher C. , Drew Neil M. , Contos Natalie E. 
Published: December 2002

AbstractUsing a contextualist epistemology, it would be expected that regional differences in community psychology would develop over time. It is argued that the epistemology and theory of Western Australian community psychology, while largely based on North American approaches, has developed its own idiosyncracies. These developed through the integration of practice and theory in an “iterative‐generative” fashion. The process of development is conceptualized in terms of Schön's and Altman's distinctions between foundational knowledge, and professional and socially responsive knowledge (I. Altman, 1996; D. A. Schön, 1983). It has also been characterized as an incremental development based on the reflection on tacit and conceptual knowledge. From the small differences that have developed between regions, a dialogue can emerge that will better allow understanding of how social forces shape people's actions.
Yeast as a Model to Study Apoptosis?
Authors: Fleury Christophe , Pampin Mathieu , Tarze Agathe , Mignotte Bernard 
Published: December 2002

Programmed cell death (PCD) serves as a major mechanism for the precise regulation of cell numbers, and as a defense mechanism to remove unwanted and potentially dangerous cells. Despite the striking heterogeneity of cell death induction pathways, the execution of the death program is often associated with characteristic morphological and biochemical changes termed apoptosis. Although for a long time the absence of mitochondrial changes was considered as a hallmark of apoptosis, mitochondria appear today as the central executioner of programmed cell death. This crucial position of mitochondria in programmed cell death control is not due to a simple loss of function (deficit in energy supplying), but rather to an active process in the regulation of effector mechanisms.
The large diversity of regulators of apoptosis in mammals and their numerous interactions complicate the analysis of their individual functions. Yeast, eukaryotic but unicellular organism, lack the main regulators of apoptosis (caspases, Bcl-2 family members, …) found in mammals. This absence render them a powerful tool for heterologous expression, functional studies, and even cloning of new regulators of apoptosis.
Great advances have thus been made in our understanding of the molecular mechanisms of Bcl-2 family members interactions with themselves and other cellular proteins, specially thanks to the two hybrid system and the easy manipulation of yeast (molecular biology and genetics).
This review will focus on the use of yeast as a tool to identify new regulators and study function of mammalian apoptosis regulators.
Traumatic events and physical health in a New Zealand community sample
Authors: Flett Ross A. , Kazantzis Nikolaos , Long Nigel R. , MacDonald Carol , Millar Michelle 
Published: December 2002

AbstractTraumatic event exposure and physical health were examined in a community‐residing sample of 1,500 New Zealand adults. Half (51%) reported past traumatic event exposure, 9% reported recent (past 12 months) trauma exposure, and 40% reported no exposure. After adjusting for gender, ethnic, and age differences, those experiencing crime and accident trauma exhibited significantly deteriorated physical health, as measured by current physical symptoms, chronic medical conditions, and chronic limitations in daily functioning. Further research is required to assess the influence of traumatic events on the physical health among adults from other countries, and to evaluate the factors that may mediate or moderate this relationship for different subgroups of the New Zealand population. Limitations of this study are outlined.
A preliminary investigation of alcohol use during trauma and peritraumatic reactions in female sexual assault victims
Authors: Clum Gretchen A. , Nishith Pallavi , Calhoun Karen S. 
Published: December 2002

AbstractThe purpose of these analyses was to investigate the association between reported alcohol use during a sexual assault and perceptions of assault severity and physical and emotional peritraumatic reactions. Self‐report data were collected on 57 sexually assaulted college women. Multivariate regression analyses revealed that perception of assault severity mediated the relationship between alcohol use and peritraumatic physical reactions.
Civilian‐based posttraumatic stress disorder and physical complaints: Evaluation of depression as a mediator
Authors: Miranda Robert , Meyerson Lori A. , Marx Brian P. , Tucker Phebe M. 
Published: December 2002

AbstractThis study examined the role of comorbid depression in the somatic complaints of 32 individuals with civilian‐based posttraumatic stress disorder (PTSD) while restricting the influence of detectable pathophysiology and additional psychiatric conditions. It was hypothesized that depressive symptomatology would mediate the relationship between PTSD and somatic symptom reporting. Participants were administered structured clinical interviews, a physical examination, and an electrocardiogram. Results of this study supported the hypothesis that depressive symptoms mediate the relationship between PTSD and physical complaints. These results add to a growing body of literature that suggests psychological factors play an influential role in the physical symptom reports of individuals with PTSD.
Defining Moments: Catalysts for Professional Development
Authors: Veach Patricia McCarthy , Bartels Dianne M. , LeRoy Bonnie S. 
Published: December 2002

AbstractIn this series of papers, 17 genetic counselors describe defining moments, that is, personal experiences or events that led to a further realization of themselves as genetic counselors. These experiences, both positive and negative, describe a significant impact on the authors' professional growth and development. A call for papers was issued through the National Society of Genetic Counselors listserv and through theJournal of Genetic Counselingin 2001. This call resulted in the following 15 papers in which the authors were asked to describe the nature of a defining moment and how it affected their professional identity and practice. The authors provided an account of the experience or event, what it was about the experience that made it a defining moment, how it affected them personally and professionally, and if a defining moment was negative, how they were able to derive positive outcomes. Implications of these defining moments for other genetic counselors are discussed in a concluding paper.
Sequence analysis of Hungarian LHON patients not carrying the common primary mutations
Authors: Horvath J. , Horvath R. , Karcagi V. , Komoly S. , Johns D. R. 
Published: December 2002

AbstractWe describe sequence analysis of the mitochondrial DNA of five Hungarian patients diagnosed with probable LHON, who do not carry any of the three primary point mutations. We report three novel mutations, one of which might have a pathogenic role.
Cardiac involvement in Wilson disease
Authors: Hlubocká Z. , Mareček Z. , Linhart A. , Kejřová E. , Pospíšilová L. , Martásek P. , Aschermann M. 
Published: December 2002

AbstractBackground: Wilson disease is an inherited autosomal recessive disorder of copper metabolism resulting in pathological accumulation of copper in the liver, brain and other tissues. One of the reported manifestations is cardiac involvement.Methods: We studied 42 patients with Wilson disease (19 men and 23 women, mean age 34±10 y) and 42 age‐ and sex‐matched healthy volunteers. All subjects underwent complete echocardiographic examination; 24 h ECG Holter monitoring was performed in 23 Wilson disease patients.Results: In comparison to healthy subjects, patients with Wilson disease had increased thickness of the interventricular septum (9.5±1.4 vs 8.6±1.1 mm, p<0.01) and left ventriclular (LV) posterior wall (9.1±1.3 vs 8.2±1.0 mm, p<0.01). While the two groups did not differ in LV mass index, relative LV wall thickness was significantly increased in Wilson disease patients compared to control subjects (0.39±0.06 vs 0.34±0.04 p<0.001). Concentric LV remodelling was present in 9 patients (21%) and LV hypertrophy in one patient. Systolic LV function showed a nonsignificant trend towards lower values in Wilson disease patients (EF 62±5% vs 64±5%, p=0.06). Diastolic filling and the frequency of valvular abnormalities were comparable in both groups. The established echocardiographic abnormalities did not correlate with the type of Wilson disease manifestation, the presence of the His1069Gln mutation, laboratory parameters or the duration and type of therapy. Twenty‐four‐hour ECG Holter monitoring detected ECG abnormalities in 10 patients (42%), the most frequent findings being runs of supraventricular tachycardias and frequent supraventricular ectopic beats.Conclusions: Cardiac involvement in Wilson disease patients was mild, characterized by LV parietal thickening with an increased prevalence of concentric LV remodelling and a relatively high frequency of benign supraventricular tachycardias and extrasystolic beats.
Neurotransmitter metabolites in CSF: An external quality control scheme
Authors: Bräutigam C. , Weykamp C. , Hoffmann G. F. , Wevers R. A. 
Published: December 2002

AbstractWe report an international external quality control scheme on neurotransmitter metabolites in cerebrospinal fluid (CSF). The neurotransmitter metabolites homovanillic acid (HVA), 5‐hydroxyindoleacetic acid (5‐HIAA) and 3‐methoxy‐4‐hydroxyphenylglycol (MHPG) are analysed to diagnose inborn errors of neurotransmitter metabolism. HVA is the catabolite of dopamine; 5‐HIAA is the catabolite of serotonin; and MHPG is the catabolite of noradrenaline. In the first phase, 12 laboratories from six countries participated in this special quality control scheme to define the present state of the art and achieve harmonization in analytical outcome and interpretation. In the second part, recoveries, dilutions and methods for sample preparation were compared. The results of 3 of 12 laboratories were excluded because of unacceptable intralaboratory coefficients of variations (CV) for HVA and/or 5‐HIAA. The inter‐ and intralaboratory CVs, the linearity and the recovery were acceptable for the other laboratories for both parameters.Unacceptable differences in the reference ranges between laboratories, leading to differences in interpretation of the results, became obvious. There was a significant improvement of the interlaboratory CV for HVA after standardization with a calibrator. The reproducibility of MHPG measurement appeared to be adequately established in only two laboratories and recovery was low in all five measuring this metabolite. The quality control scheme is an invaluable tool for controlling the analytical outcome and providing support to laboratories to improve their quality.
Pregnancy and tyrosinaemia type II
Authors: Cerone R. , Fantasia A. R , Castellano E. , Moresco L. , Schiaffino M. C. , Gatti R. 
Published: December 2002

AbstractA female patient with tyrosinaemia type II is reported having undergone two untreated pregnancies. During pregnancies, plasma tyrosine was raised. The outcomes of both offspring show that maternal tyrosinaemia may have an adverse effect on the developing fetus.
Intestinal function in glycogen storage disease type I
Authors: Visser G. , Rake J. P. , Kokke F. T. M. , Nikkels P. G. J. , Sauer P. J. J. , Smit G. P. A. 
Published: December 2002

AbstractGlycogen storage disease type I (GSD I) (McKusick 232200) is caused by inherited defects of the glucose‐6‐phosphatase complex. Patients with GSD Ia as well as patients with GSD Ib may suffer from intermittent diarrhoea, which seems to worsen with age. The cause of this diarrhoea is unknown. This study describes the results of investigations of intestinal functions and morphology in patients with GSD Ia and GSD Ib, which were performed to detect a common cause for chronic diarrhoea in GSD I. The following were investigated: faecal fat excretion, faecal α1‐antitrypsin and faecal chymotrypsin, expiratory H2 concentrations, persorption of cornstarch in urine and colonic biopsies. With the investigations presented in this study, no common cause for diarrhoea in GSD I was found. In GSD Ib loss of mucosal barrier function due to inflammation, documented by increased faecal α1‐antitrypsin excretion (3.5–9.6 mg/g dry faeces) and inflammation in the colonic biopsies, seems to be the main cause. The inflammation is most likely related to disturbed neutrophil function, which is often found in GSD Ib. Whether another cause is involved in GSD Ia and in GSD Ib, related to the disturbed function of glucose‐6‐phosphatase in the enterocyte, remains to be investigated.
A Qualitative Investigation of Somali Immigrant Perceptions of Disability: Implications for Genetic Counseling
Authors: Greeson Carrie J. , Veach Patricia McCarthy , LeRoy Bonnie S. 
Published: December 2002

AbstractThis study examined the potential utility of genetic counseling services for Somali immigrants by investigating their perceptions of disability. Five Somali women participated in structured interviews that assessed their perceptions of the nature, causes, and impact of disability, and care for persons with disabilities. Using a Heideggerian Hermeneutics qualitative method of analysis, six major themes emerged: (1) disability refers to both physical and mental conditions, with mental disability generally thought of first and as more severe; (2) in Somalia, the family cares for disabled family members, treating them as if they were “normal” (3) there are major cultural differences between Somalia and the United States in how persons with disabilities are treated; (4) caring for a person with a disability is stressful for the family; (5) Allah determines whether or not a child will be disabled, and this cannot be predicted or altered; and (6) family is the primary life focus, and therefore, risk of disability does not affect reproductive decisions. These themes suggest that traditional genetic counseling may have limited utility for Somali immigrants. We recommend several modifications to traditional genetic counseling for Somali patients that also may be useful for populations that have similar beliefs.