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PubMed2003

Population genetic screening programmes: principles, techniques, practices, and policies.

This paper examines the professional and scientific views on the principles, techniques, practices, and policies that impact on the population genetic screening programmes in Europe. This paper focuses on the issues surrounding potential screening programmes, which require further discussion before their introduction. It aims to increase, among the health-care professions and health policy-makers, awareness of the potential screening programmes as an issue of increasing concern to public health. The methods comprised primarily the review of the existing professional guidelines, regulatory frameworks and other documents related to population genetic screening programmes in Europe. Then, the questions that need debate, in regard to different types of genetic screening before and after birth, were examined. Screening for conditions such as cystic fibrosis, Duchenne muscular dystrophy, familial hypercholesterolemia, fragile X syndrome, hemochromatosis, and cancer susceptibility was discussed. Special issues related to genetic screening were also examined, such as informed consent, family aspects, commercialization, the players on the scene and monitoring genetic screening programmes. Afterwards, these questions were debated by 51 experts from 15 European countries during an international workshop organized by the European Society of Human Genetics Public and Professional Policy Committee in Amsterdam, The Netherlands, 19-20, November, 1999. Arguments for and against starting screening programmes have been put forward. It has been questioned whether genetic screening differs from other types of screening and testing in terms of ethical issues. The general impression on the future of genetic screening is that one wants to 'proceed with caution', with more active impetus from the side of patients' organizations and more reluctance from the policy-makers. The latter try to obviate the potential problems about the abortion and eugenics issues that might be perceived as a greater problem than it is in reality. However, it seems important to maintain a balance between a 'professional duty of care' and 'personal autonomy'.

Ethics↗
PubMed1998

Fitting genetic mapping functions based on sperm typing: results for three chromosomal segments in cattle.

Genetic mapping functions translate the observed recombination rate between two loci into the corresponding map distance in Morgan units. Different mapping functions give different weights to multiple crossing over and therefore lead to different results. This points out that not every function is best suited to fit a data set. The data used in this study originated from 2214 sperm from 37 Norwegian bulls, which were genotyped for 11 markers. The optimal functions for the chromosomes 6, 23 and the sex chromosome of cattle were derived using the maximum likelihood method, the likelihood ratio test and empirical discriminant analysis. It became apparent that for each chromosome a different function fitted the data best. These were the function of Rao et al. (Human Heredity 1977, 27, 99-104) with p = 0.63 for chromosome 6, the function of Goldgar & Fain (American Journal of Human Genetics 1988, 43, 38-45) with C0 = 0.42, C1 = 0.47, C2 = 0.07 and C3 = 0.04 for chromosome 23 and the function of Felsenstein (Genetics 1979, 91, 769-75) with K = 0.23 for the sex chromosome. The well known functions of Haldane (Journal of Genetics 1919, 8, 299-309) and Kosambi (Annals of Eugenics 1944, 12, 172-5) were shown to be suboptimal in most cases. A function is said to be multilocus feasible if the evaluation of the probability of all possible recombination events does not lead to negative values. The optimal function for chromosome 23 turned out to be multilocus feasible, whereas the functions for chromosome 6 and the sex chromosome were not. The choice of the correct mapping function is shown to have a considerable impact in mapping studies, when double recombinations have to be taken into account. Since there is no unique best mapping function, it is argued that it might be useful to use a simple parametric mapping function (like the one of Felsenstein 1979) and to estimate the respective parameter specifically for a given data set.

Animals↗
PubMed1998

Parents with learning disabilities: a review of the literature.

Parenting by learning disabled persons is a highly emotive issue, eliciting arguments from both extremes. Many of the arguments against such parenting have their basis in eugenic theory, whereas those in favour, often cite human rights declarations, and philosophies such as 'normalization'. This review of the literature describes the chronological development of theory on the subject, spanning 1900 to the present day. It has become clear that, whereas parents with learning difficulties may be more predisposed to having problems, they can indeed perform as adequate parents, given appropriate training and support. This paper traces the development of current theory, through an in-depth discussion of the available literature.

Humans↗
PubMed2003

Cold and carbon dioxide used as multi-hurdle preservation do not induce appearance of viable but non-culturable Listeria monocytogenes.

AIMS: To study whether the exposure to cold (4 degrees C) and carbon dioxide which results in the elongation of Listeria cells, induces a viable but nonculturable (VBNC) state. METHODS AND RESULTS: When cold and CO2 stressed L. monocytogenes were observed under a fluorescence microscope, using the LIVE/DEAD BacLight bacteria viability kit (Molecular Probes, Eugene, OR, USA), the healthy, mildly injured, and the putative VBNC cells accounted for 31.0% of the stressed cell population. By using the selective plate count, 31.4% of the same stressed cell population was found to be healthy and mildly injured (putative VBNC cells not included). If there were VBNC state cells present, we should have observed a significant difference between the above two numbers. In fact, there was no significant difference between the results obtained from those two methods. CONCLUSIONS: There were no VBNC state cells observed in the stressed cell population. We conclude that cold and CO2 do not induce L. monocytogenes to enter a VBNC state. SIGNIFICANCE AND IMPACT OF THE STUDY: Cold and modified atmospheres are widely used in fresh muscle food and fruit preservation. Whether they would induce L. monocytogenes into a VBNC state is of a great concern for microbial food safety.

Adenosine Triphosphate↗
PubMed2002

Attitudes of Japanese students toward people with intellectual disability.

BACKGROUND: The purpose of the present study was to gain insight into the structure and organization of the attitudes of Japanese students toward people with intellectual disability (ID). The study also examined how these attitudes are related to individual characteristics, such as experience with people with ID, major field of study and career interests. METHODS: The participants completed a series of measures developed in the USA: three measures of attitudes toward people with ID, a demographic questionnaire and a social desirability scale. Students completed the measures anonymously. RESULTS: The factor structures of all three attitude scales replicated the structures found in the USA. Attitudes toward the community inclusion of people with ID were negatively correlated with an endorsement of eugenics. Students in social work and psychology had more positive attitudes than other students. Participants who expressed an interest in a career working with people with ID had more positive attitudes than students with no interest in such a career. CONCLUSIONS: Attitude measures developed in the USA can be used in Japan, and can provide useful information as well as an opportunity for cross-cultural comparisons. For a more complete understanding of the attitudes of Japanese people toward people with ID, these attitudes should also be studied using measures based in Japanese culture which have specifically developed to measure attitudes in Japan.

Attitude to Health↗
PubMed2002

Psychiatrists as a moral community? Psychiatry under the Nazis and its contemporary relevance.

OBJECTIVE: In Nazi-occupied Europe, substantial numbers of psychiatrists murdered their patients while many other psychiatrists were complicit with their actions. This paper addresses their motivations and actions, and with particular reference to Australia, explores issues of contemporary relevance. METHODS: The events are reviewed in their historical context using mainly secondary sources. RESULTS: The assumption that the term "Nazi" denotes a closed and unrepeatable chapter is questioned. As with the Holocaust that followed, medical killing of psychiatric patients was an open secret with gradations of collective knowing. Perpetrators were impelled by pressure from peers and superiors, unquestioning obedience, racist ideology and careerism. Perpetrators and bystanders' denial was facilitated by use of deceptive language, bureaucratic and technical proficiency, and notions such as "a greater cause" or "sacred mission". Dissociation and numbing were common. Psychiatrists were the main medical specialty involved because Nazi race and eugenic ideology (accepted by many psychiatrists) targeted mentally ill people for sterilization and euthanasia, and because psychiatrists were state-controlled and tended to objectify patients. Few psychiatrists resisted. IMPLICATIONS: Nazi psychiatry raises questions about medical ethics, stigma and mental illness, scientific "fashions", psychiatry's relations with government, and psychiatrists' perceived core business. Psychiatric resistance to future similar threats should be based on commemoration, broad-based education and reflection on cultural values, strong partnerships between psychiatrists and patients, and willingness to question publicly policies and attitudes that disadvantage and stigmatize groups. The principle fundamental to all these practices is an orientation to people as subjects rather than objects.

Euthanasia↗
PubMed1999

Nursing, social contexts, and ideologies in the early United States birth control movement.

Using historical discourse analysis, this study provides a thematic analysis of writings of nursing and birth control as found in The Birth Control Review from 1917 to 1927. The author contrasts this publication with the official journal of the American Nurses Association, the American Journal of Nursing from the same years to explore nursing voices and silences in early birth control stories. In dialogue with social contexts, nursing endeavors and inactivity have played important yet conflicting roles in the birth control movement in the United States. Nursing writings from the early twentieth century reflect eugenic beliefs, national fears of immigrants, and ambivalence about women's roles in society and the home. Nurses simultaneously empowered women to choose when to become pregnant and reinforced nativist and paternalistic views of the poor.

Attitude to Health↗
PubMed2003

Laser tenotomy and vocal process resection for bilateral midline vocal fold fixation.

BACKGROUND: The present retrospective study presents the outcomes of a group of 21 patients with laryngeal obstruction caused by bilateral vocal fold fixation. All of these patients were treated by laser assisted muscle tenotomy and vocal process resection - a modification of the technique described by Michael and Eugene Rontal in 1994.1 METHODS: Between January 1997 and March 2002 the senior author performed muscle tenotomy and vocal process resection for bilateral vocal fold fixation on 21 patients. RESULTS: The mean follow-up time was 2.3 years. The technique was successful in achieving an adequate airway and good voice with no aspiration in every case. CONCLUSIONS: Laser assisted muscle tenotomy and vocal process resection is a proven treatment for bilateral medial vocal fold fixation with the provision of a good airway, good voice and the avoidance of aspiration.

Adolescent↗
PubMed2004

Divalent cations regulate acidity within the lumen and tubulovesicle compartment of gastric parietal cells.

BACKGROUND & AIMS: Until recently, it has not been possible to evaluate factors that regulate the acidity of the microenvironment within the tubulovesicles and luminal (TV/L) spaces of the gastric gland. The goal of this study was to develop a method for monitoring the mechanisms that regulate acidity in the TV/L compartment. METHODS: Isolated rabbit gastric glands (intact or permeabilized with S. aureus alpha-toxin) were loaded with a recently characterized fluorescent dye, LysoSensor Yellow-Blue DND 160 (Molecular Probes, Eugene, OR), which localizes to highly acidic compartments and can be used to monitor acidity ratiometrically. RESULTS: In resting glands, the pH of the TV/L compartment was approximately 3.4. Moderate alkalizations ( approximately 0.5 to 1.0 pH unit alkalization) were observed during exposure to inhibitors of the apical H(+)/K(+) ATPase (omeprazole and SCH28080), thereby unmasking a stable, low-level leak of H(+) ions from the TV/L compartment. Similar changes were observed in alpha-toxin permeabilized glands following depletion of ATP in the cytoplasm. In intact and permeabilized glands, we used the cell-permeant, divalent cation chelator, tetrakis-(2-pyridylmethyl)ethylenediamine (TPEN) to probe the effects of lowering divalent cation content of the TV/L compartment. Exposure to relatively low concentrations (20 micromol/L, 50 micromol/L) of TPEN reversibly promoted H(+) leakage. At these concentrations, simultaneous inhibition using SCH28080 led to marked enhancement of the rate of alkalization. CONCLUSIONS: The effects of low-dose TPEN suggests that acidity within the TV/L compartment of the gastric gland may be regulated, at least in part, by its content of divalent cations such as Zn(2+), for which TPEN has high affinity.

Animals↗
PubMed2003

Cold preservation-warm reperfusion perturbs cytosolic calcium ion homeostasis in rat liver sinusoidal endothelial cells.

Increases in intracellular calcium ion (Ca(2+)) levels of sinusoidal endothelial cell (SEC) may have a crucial role in mediating the expression of adhesion molecules and thus contribute to the microcirculatory disturbances observed in primary graft dysfunction. The effect of changes in the composition and/or temperature of the reperfusion solution on cytosolic Ca(2+) was studied in isolated rat SECs. Cells were preserved in cold University of Wisconsin (UW) solution for 0, 12, or 24 hours and loaded with Fura-2AM dye (Cedarlane, Eugene, OR) at 20 degrees C in N-2-hydroxyethylpiperazine-propanesulfonic acid (HEPES)-buffered physiological solution (HEPES 20 degrees C) or UW solution (UW 20 degrees C). SEC Ca(2+) levels were measured by cytofluorimetry. Basal steady-state Ca(2+) levels were much lower when SECs were loaded in UW 20 degrees C (37 +/- 2 nmol/L) than in HEPES 20 degrees C (114 +/- 32 nmol/L). In unstored controls (0 hour), going from UW 20 degrees C to HEPES 37 degrees C induced a large transient increase (185 +/- 31 nmol/L) in SEC Ca(2+) levels, which was greatly inhibited (43 +/- 13 nmol/L) in Ca(2+)-free HEPES 37 degrees C. A similar large transient increase was observed going from UW 20 degrees C to HEPES 20 degrees C (163 +/- 22 nmol/L). Changing temperature only (20 degrees C to 37 degrees C) in UW or HEPES solution had a much smaller effect on SEC Ca(2+) levels (14 +/- 2 and 60 +/- 18 nmol/L, respectively). These changes were similar in cold-preserved cells. In unstored controls, solution changes greatly attenuated the intensity of subsequent Ca(2+) responses to the purinergic agonist adenosine triphosphate (ATP). Cold preservation (CP) greatly attenuated both the frequency of appearance and intensity of ATP-induced Ca(2+) responses. Hence, changing reperfusion solution composition has a greater impact on SEC steady-state Ca(2+) levels than changing temperature. Cold preservation does not significantly affect changes in SEC steady-state Ca(2+) levels, but greatly impairs the capacity of SECs to subsequently respond to Ca(2+)-mobilizing agonists.

Adenosine↗
PubMed2002

The 6p deletion syndrome: a new orofacial clefting syndrome and its implications for antenatal screening.

Foetal genetic screening has become the centre of the ethical debate surrounding the screening of foetuses for chromosomal defects to help create 'eugenic' children with either perceived advantageous characteristics or traits that could be used to medically aid unhealthy siblings. This report highlights the problems facing the medical establishment by citing, by way of example, a case of a genetic abnormality producing a clefting syndrome. The 6p deletion syndrome was first described almost 20 years ago, and the evidence is mounting for its inclusion as an orofacial clefting syndrome. This case report includes a description of the syndrome, the method used for detecting chromosomal aberrations and a comparison with other reports of the syndrome published to date. However, by pursuing a genetic-testing policy at our unit to detect new abnormalities or to help substantiate previously reported abnormalities, the way could be left open for its subsequent abuse by parents and corporations alike, so having implications not only for the individual but also for the unit performing the test. A brief synopsis is therefore also provided regarding the current circumstances of foetal screening in the UK.

Chromosome Deletion↗
PubMed2001

Comments on the unreasonable effectiveness of the biological and especially medical sciences.

About 50 years ago it was pointed out by Dr. Eugene Wigner that applications of mathematics to a wide range of physical problems were inexplicably effective in both their immediate practical results and predictive power. The reasons for this remain elusive. In a loosely analogous sense, parallels can be drawn between such an effectiveness and the evolving power of the biological sciences, leading to the accomplishment of many practical and theoretical goals. We consider some of the similarities and differences that distinguish these two modalities with which certain features of physical reality are apprehanded, analyzed and manipulated.

Biology↗
PubMed2001

[Cognitive dysfunction in schizophrenic psychoses. Drug and psychological treatment choices].

Primarily from the perspective of psychopharmacology, schizophrenic symptomatology has recently been dichotomized into "plus" and "minus" symptoms, although the role of cognitive dysfunctions has been regarded as particularly important for the diagnosis since the time of Eugen Bleuler. Many studies show that schizophrenic patients suffer consistently from cognitive dysfunction. Among these, are impairments of attention and memory functions as well as executive functions such as planning and problem solving. These impairments are stable or progressive and often continue into the remission phase of schizophrenia and impair both social integration as well as occupational performance. In this overview, research results on cognitive dysfunction in patients with schizophrenic illnesses and their relation to psychosocial disabilities are described first. The therapeutic value and possible clinical-practice implications of atypical anti-psychotics and various cognitive therapy methods are then presented. Methodological weaknesses and open questions, both pharmacological and with regard to cognitive interventions, are discussed.

Antipsychotic Agents↗
PubMed2005

[Etiological concepts of chronification in schizophrenia].

Kraepelin and Eugen Bleuler understood the chronicity of schizophrenia as a typical expression of its natural course. Although they erred in this pessimistic assessment, some 30-35 % of all schizophrenia patients do suffer from chronic residual symptoms after years of having the disease, despite sociopsychiatric reform efforts that led to open hospitals and greater patient autonomy. According to the vulnerability conception, schizophrenia is regarded as a vulnerability that causes decompensation leading to psychotic episodes under the influence of internal and/or external stressors. The vulnerability threshold can be increased or lowered by influencing variables. In addition to factors immanent to the disease, some of these variables are related directly or indirectly to chronicity of the disease.

Chronic Disease↗
PubMed2006

[Homage to Kraepelin, honouring his 150th birthday--"Zerfahrenheit", Kraepelin's specific symptom for schizophrenia].

Kraepelin described but one single specific sign for all forms of dementia praecox (later: schizophrenia) and coined a new word for it, "Zerfahrenheit" (various translations: distraction, dilapidation, incoherence, among others). What he meant by it, clearly results from Kraepelin's description even now. The origin of the idea could been found in German philosophy of the times of enlightenment, when it had been described already in a distinct way. That time coined the word "Verrücktheit" for it (usual translation: mental derangement; better translations would be the same as for "Zerfahrenheit"). Because of the influence of French psychiatry with its quite different background and the hurly burly about paranoia (Heinroth's Greek translation for "Verrücktheit") the knowledge of the sign got lost. Kraepelin restored the original meaning, without referring however to the sources directly. In spite of having been acknowledged as a specific sign for dementia praecox by all German psychiatrists, only one decade after the first description a new process of unclearing recommenced. This bow curved from Eugen Bleuler via Kurt Schneider and others to DSM III/IV and ICD-10. In the current paper we follow Kraepelin's process of clearing via all 9 editions of his textbook of psychiatry. Since the German original of Kraepelin's first extended description currently can be found only in larger libraries, the integral text of it is being reprinted (in English a recent translation by Jacques M. Quen is available). No corrections or changes are necessary. Kraepelin's 150th birthday is the best occasion for reminding of what remains unique in the clinical unity of schizophrenia, which for ever is linked to his name. It still is a solid sign for schizophrenia, for all its various forms.

Germany↗
PubMed1986

[Degeneration theory in psychiatry].

Degeneration (called "dégénérescence" in French and "Degenerationslehre" in German terminology) as a theory of human retrogression manifested by degenerative signs in individuals, was a major factor in medicine and especially in psychiatry during the second half to the 19th century and at the beginning of the 20th century. Theories of retrogression seemed to supply conclusive hypothetic explanatory models for a wide variety of deviations from so-called "standard" values of health criteria for neurological diseases, brain disorders and mental diseases. The theory of degeneration, or retrogression, was closely interlinked with the complex ideological pattern that formed the background of philosophy and natural science during the nineteenth century. The theory of degeneration experienced mutual interaction and stimulation by the interplay with various other theories that were "en vogue" at that time, such as the development of positivistic natural science and of the theory of evolution, which in turn gave birth to the theories of social Darwinism, eugenics, genetics and to the development of biological-vitalistic approaches. In contrast with the other fields of medicine, anatomic pathology was unable to uncover any aetiological linkups for the various types of mental diseases. Hence, the theories of degeneration seemed to offer a conclusive concept for the genesis of mental disorders. The concept of degeneration was based on the theory of polymorphism which in turn positioned the wide range of neurological, mental and brain diseases within the descending series of progressing degeneration.

Europe↗
PubMedDate not supplied

[Legal limits in the treatment of severely handicapped newborn infants?].

For the determination of legal limits in the care of seriously impaired newborns no real or presumed decisions of the patient are at hand. An autonomy of the patient (such as informed consent/refusal) does not exist nor do individual signs that would allow assumptions about the newborn's will. Also, decisions of the legal guardians are not binding if they are directed against the child's interests. Judgements based on arguments that consider social and psychological facts must be rejected as well as considerations about the rightfulness of an abortion on eugenic grounds. Solely general legal principles and norms can serve as a guideline for the determination of such limits: "life" as the most precious value guaranteed by constitution, the ban of the killing of any human being as a criminal act, the physicians general objectives that are based on professional ethics and affect law. From this can be deducted: Any obligation of the physician ends with the cerebral death of the patient. The obligation to prolong life ceases with: irreversible coma, or if necessary operations would result in such coma, or if life that befits a human being can never be secured without the help of mechanical ventilation, or if survival would constantly require new serious operations, or if imminent death could only be postponed for a short period of time.(ABSTRACT TRUNCATED AT 250 WORDS)

Abnormalities, Multiple↗
PubMed1996

[Head teacher Wagner and Professor Gaupp--a 25-year relationship catamnesis].

The mass murderer and arsonist Ernst August Wagner, born in 1874 in Württemberg and Robert Eugen Gaupp, director of the Universitätsnervenklinik Tübingen from 1906 to 1936, had a close personal, forensic, and scientific relationship for 25 years. After Wagner had committed murder 14 times and arson several times in September 1913, Gaupp provided an extensive psychiatric report on Wagner and his offences. Wagner was sent to a psychiatric hospital (Heil- und Pflegeanstalt), where remained from 1914 until his death in 1938. During that period Gaupp published almost a dozen articles on what was to become his most significant patient. His theory of paranola was based decisively on the Wagner case. The effects of this long-standing relationship between the doctor and the patient are shown--as far as the influence on Gaupp's scientific statements and insight is concerned, as well as, vice versa, the influence of Gaupp's scientific viewpoints on the relationship.

Commitment of Persons with Psychiatric Disorders↗