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PubMed1989

Euthanasia and mental retardation: suggesting the unthinkable.

Current opinions on euthanasia of persons with mental retardation were discussed within the framework of the development of social policy towards this population. Historians of mental retardation have emphasized that incarceration and sterilization were the only two policy options available in the late 19th and early 20th centuries, but a third option, euthanasia, was also suggested. The significance of the euthanasia option as the nation struggled to find a solution to the question of how to deal with what was thought to be a sharp rise in the number of people with mental retardation in the United States in the late 19th and early 20th centuries was examined. The responses of service providers to suggestions that euthanasia be implemented were reviewed. The rejection of proposals for euthanasia on moral and religious grounds and on the basis that custodial institutions, based on eugenics principles, were able to achieve the same end through a scientifically justifiable means was explored.

Eugenics↗
PubMed1995

The beast in man: degenerationism and mental retardation, 1900-1920.

It is widely believed that the eugenics movements was largely responsible for the turn of the century perception that individuals with mental retardation were a social menace. However, that explanation fails to account for the vast corpus of 19th century degeneration theory, which, in the Progressive era, became the lens through which mental retardation was viewed. In this paper I have described the chain of theological and scientific reasoning that led to the linkage of mental retardation with the evolutionary "mark of the beast," a development that not only helped fuel the notorious myth of the "menace of the feeble-minded" but also cast a long shadow into this century.

Eugenics↗
PubMed1993

[Molecular medicine].

The introduction of new methods into medicine, such as recombinant DNA, production of monoclonal antibodies, and particularly polymerase chain reactions, yielded much knowledge and information in fields like preventive medicine (prenatal screening), reproduction strategies (preimplantation diagnosis of genetic defects), molecular diagnosis (oncological and infectious diseases), gene therapy, etc. In many areas the practical use of these sophisticated approaches has become technically feasible yet due to the high cost involved it is still limited. The introduction of some screening programs will be associated with ethical problems of serious impact. To date we can already establish presymptomatic diagnosis of some progressive diseases for which however no therapy is available. Potential abuse of confidential genetic information as well as the possibilities of using gene therapy for "corrective eugenics" are loaded with serious ethical problems. Prospective doctors have to be prepared for this situation in the course of undergraduate studies of medicine. (Ref. 11.)

Abortion, Eugenic↗
PubMed1993

The "lethal chamber": further evidence for the euthanasia option.

Historical discussions of the euthanasia or "lethal chamber" option in relation to people with mental retardation were presented. Positions were classified into those (a) dismissing the option, (b) presenting ambivalent views, and (c) showing outright support. Tredgold's forthright views in support of euthanasia for "idiots" and "imbeciles" were highlighted. Eugenic beliefs in the primacy of heredity over environment in determining mortality and the positive role of natural selection in race betterment were presented. I proposed that these beliefs were used to condone, if not encourage, the poor conditions characteristic of large, segregated institutions during the early decades of this century and their high rates of mortality from infectious diseases such as tuberculosis. The conclusion was drawn that euthanasia may thus have been implemented, albeit unofficially, in at least some institutions.

Eugenics↗
PubMedDate not supplied

Perinatal health care in Japan.

The maternal and infant health care system and vital statistics in Japan are reviewed. The improvement of socioeconomic conditions, higher education for women, comprehensive health care provided by the government, regionalization for high-risk pregnancy, medical advances in the care of pregnant women and neonates, the significant decline of perinatal and neonatal mortality rates in recent decades are all contributing factors in improved maternal-infant health care. On the basis of recent statistics showing that the survival rate of extremely low birth weight infants increased over 80%, the viability limit defined by Eugenic Protection Act was amended in 1991 from 24 to 22 completed weeks of gestation.

Adolescent↗
PubMed1997

[Social psychiatry and social aspects of psychiatry--on the historical applications of the concepts].

In German language the two terms "Soziale Psychiatrie" and "Sozialpsychiatrie" are used without any clear distinction. In this paper a historical analysis of the connotations of the two terms is made while underlying concepts are not considered. In the 19th century the words social and medicine were connected. At the beginning of the 20th century the terms "Soziale Psychiatrie" and "Sozialpsychiatrie" appeared in German as synonyma. In Germany-unlike, for instance, in the USA-ideas of segregation of the mentally ill and of eugenics were also regarded as "Soziale Psychiatrie". In difference to this connotation "Soziale Psychiatrie" described intentedly ideological positions in the 70's, while a certain of area of research was rather associated with "Sozialpsychiatrie". Finally, a more precise use of the terms is suggested for current discussions.

Community Psychiatry↗
PubMed1997

[Several aspects of the development of social public health in Mecklenburg before 1945].

The rise of social hygiene in Mecklenburg before 1945 is described via examples of three scholars of the Rostock University (Julius Uffelmann, Hans Reiter, Werner Kollath). By contextualising this rise, the paper attempts to demonstrate both the transformation of medical items into disciplines and the change of social values of illness and health. This was accompanied by an increasing dissemination of medical-biological values and concepts, from which eugenics emerged and subsequently served as a general model for constructing a well-organised and developing society. Thus a growing number of social disciplines became subjected to these ideas.

Eugenics↗
PubMed2005

Racial differences in the use of BRCA1/2 testing among women with a family history of breast or ovarian cancer.

CONTEXT: Given the current context of racial disparities in health and health care and the historical context of eugenics, racial disparities in the use of genetic susceptibility testing have been widely anticipated. However, to our knowledge there are no published studies examining the magnitude and determinants of racial differences in the use of genetic susceptibility testing. OBJECTIVES: To investigate the relationship between race and the use of BRCA1/2 counseling among women with a family history of breast or ovarian cancer and to determine the contribution of socioeconomic characteristics, cancer risk perception and worry, attitudes about genetic testing, and interactions with primary care physicians to racial differences in utilization. DESIGN, SETTING, AND PARTICIPANTS: Case-control study (December 1999-August 2003) of 408 women with a family history of breast or ovarian cancer, of whom 217 underwent genetic counseling for BRCA1/2 testing (cases) and 191 women did not (controls). Participants received primary care within a large health system in greater Philadelphia, Pa. MAIN OUTCOME MEASURES: Probability of carrying a BRCA1/2 mutation, socioeconomic characteristics, perception of breast and ovarian cancer risk, worry about breast and ovarian cancer, attitudes about BRCA1/2 testing, and primary care physician discussion of BRCA1/2 testing were measured prior to undergoing BRCA1/2 counseling for cases and at the time of enrollment for controls. RESULTS: African American women with a family history of breast or ovarian cancer were significantly less likely to undergo genetic counseling for BRCA1/2 testing than were white women with a family history of breast or ovarian cancer (odds ratio, 0.22; 95% confidence interval, 0.12-0.40). This association persisted after adjustment for probability of BRCA1/2 mutation, socioeconomic characteristics, breast and ovarian cancer risk perception and worry, attitudes about the risks and benefits of BRCA1/2 testing, and primary care physician discussion of BRCA1/2 testing (adjusted odds ratio for African American vs white, 0.28; 95% confidence interval, 0.09-0.89). CONCLUSIONS: Racial disparities in the use of BRCA1/2 counseling are large and do not appear to be explained by differences in risk factors for carrying a BRCA1/2 mutation, socioeconomic factors, risk perception, attitudes, or primary care physician recommendations. The benefit of predictive genetic testing will not be fully realized unless these disparities can be addressed.

Adult↗
PubMed1996

Ernst Rüdin (1874-1952) and his genealogic-demographic department in Munich (1917-1986): an introduction to their family studies of schizophrenia.

This historical review introduces a series of papers abstracting, reanalyzing and commenting upon family studies of schizophrenia conducted by Ernst Rüdin and his geneologic-demographic department in Munich. These studies, which pioneered many of the methods still critical to psychiatric genetics, are little known in the anglophonic world. Starting with a study of schizophrenia in siblings, members of the Rüdin school expanded to study a wide range of relationships (including grandchildren and nieces/nephews) and disorders (including affective illness, obsessive-compulsive disorder, epilepsy and personality disorders). They examined many methodologic issues in psychiatric genetics including i) ascertainment correction, ii) anticipation, iii) age correction, iv) assortative mating, v) reduced fertility, vi) spectrum disorders, and vii) familial transmission of age at onset. After the rise of Hitler in Germany, Rüdin and his institute became involved in the eugenic policies of the Nazis, raising important questions about possible political abuse of scientific findings in general and those from the field of psychiatric genetics in particular.

Demography↗
PubMed1998

Alice Vance ("Das Bärenweib"): a historical case of Nievergelt syndrome.

Several malformed individuals were presented at the World Exhibition in Antwerp in 1894. Among them was Mrs. Alice Vance from Mount Pleasant, Texas, with congenital limb defects, and Mr. Eugen Berry, who had asymmetrical, monstrous enlargement and macrodactyly of the feet, i.e., Proteus syndrome. After the World Exhibition Mrs. Vance presented herself to the public in Castan's Panopticon imitating a bear. She became famous under the stage name "Das Bärenweib" ("the bear-like woman") and was examined by several German clinicians, and her malformations were considered to be of high scientific interest. Mrs. Vance had mesomelic dwarfism and her mother was known to have similar malformations. Her limb deficiencies were generally considered a unique congenital condition those days, and the diagnosis of "a maternally inherited malformation of the forearms and the shanks" [Daffner 1898: Munch Med Wochenschr 25:782] was made. Virchow [1897: Verh Berl Ges Ethnol Urgeschichte 29:624], feeling attacked by a daily newspaper stating that the physicians as well as the police of Berlin had missed the diagnosis of an "English disease," eventually exercised his authority and diagnosed Alice Vance as a "phocomelic." Clearly, she was not a phocomelic according to past and current definition of this term. Thus, from a historical point of view, the story illustrates how pressure from the daily press altered the definition of an up-to-then precisely defined medical term for decades. According to the clinical data and an X-ray report available from the literature, Alice Vance had a dominantly inherited type of mesomelic dwarfism. We propose the diagnosis of Nievergelt syndrome.

Abnormalities, Multiple↗
PubMed1998

Development of N-methyl-D-aspartate receptor subunit immunoreactivity in the neonatal gerbil cochlear nucleus.

The distribution of immunoreactivity for the ionotropic N-methyl-D-aspartate (NMDA) receptor subunits was mapped in the cochlear nucleus of postnatal day (P) 7, P14, P21, and P28 gerbils. Frozen sections and serial plastic sections of tissue were incubated with antibodies to NMDAR1 (NR1), NMDAR2A (NR2A), NMDAR2A/B (NR2A/B), and NMDAR2B (NR2B). An overall diffuse stain was noted at P7 for NR1 and NR2A/B. Staining of neuronal somata in the dorsal cochlear nucleus molecular layer and fusiform cell layer, the posteroventral cochlear nucleus octopus cell area, and the anteroventral cochlear nucleus increased from P7 to P28. Staining of the neuropil (the unresolved mass of processes and axons, excluding only neuronal somata and distinctly stained proximal dendrites) of the deep dorsal cochlear nucleus and posteroventral cochlear nucleus showed a steady decrease, while molecular layer neuropil remained moderately stained. The NR2A antibody produced a distinctive staining of dendrites in the dorsal cochlear nucleus deep and fusiform cell layers seen first at P14 with increasing dendritic lengths stained at P21 and P28. Giant neurons of the deep dorsal cochlear nucleus were the most conspicuous somata stained by the NR2A. Their stained dendrites spanned much of the dorsal cochlear nucleus deep and fusiform cell layers and even extended into the octopus cell area of the posteroventral cochlear nucleus. Dendritic staining was also present in caudal and rostral posteroventral cochlear nucleus, first distinguishable at P14 and becoming increasingly strong. The Chemicon polyclonal NR2B antibody produced glial staining especially prominent in the caudal posteroventral cochlear nucleus and the dorsal cochlear nucleus fusiform cell layer, most intense at P7 and subsequently decreasing, although not disappearing, in all areas through P28. The Molecular Probes (Eugene, OR) polyclonal NR2B produced a light granular staining pattern over a number of somata but no glial staining. Neuropil staining was not prominent with either NR2B antibody. Differences in changes of neonatal immunoreactivity patterns in different populations of cochlear nucleus neuronal somata and dendrites for NR1, NR2A, NR2A/B, and NR2B suggest that alterations in some receptor composition is occurring over the period spanning the onset of hearing.

Animals↗
PubMed1999

Inherited cancer and the primary care physician. Barriers and strategies.

Difficulties faced by primary care physicians as they increase their responsibility for the diagnosis of inherited cancer risk include issues of cognitive strategy, the context of care, and cultural and institutional factors. Charateristics common to many genetic disorders--such as rarity, variability, implications for relatives, and temporal pattern--render our usual cognitive strategies less effective. Constraints of managed care, care teams, and high turnover of panels create a particularly difficult context for the care of people at risk for inherited cancer. Echoes of the eugenics movement, the implications of expanding genetic knowledge, and concerns about discrimination all complicate collaborative clinical decision making. Eight strategies are suggested to cope with these barriers to diagnosis. Primary care physicians also face challenges managing patients identified as at increased risk for inherited cancer. These include confidentiality, coordination and communication. Concerns for protecting the patient's confidentiality can inadvertently leave primary care physicians with partial information. Coordination is complicated when multiple organ systems and individuals are at risk, and knowledgable specialty centers may be distant. Communication requires sensitivity and skill in translating complex concepts from molecular biology and statistics into lay terms. Seven strategies are suggested to help with management.

Adult↗
PubMed1998

Measurement of absolute concentration and viability of CD34+ cells in cord blood and cord blood products using fluorescent beads and cyanine nucleic acid dyes.

Conventional flow cytometric methods for CD34+ cell counting may be affected by the high number of nucleated red blood cells or nonviable cells in cord blood and its products. We developed a simple flow cytometric no-wash procedure that avoids these shortcomings because it provides absolute CD34+ cell counts and assesses cell viability. Samples were incubated with phycoerythrin (PE)-labeled anti-CD34 (Becton Dickinson Immunocytometry Systems [BD], San Jose, CA) and peridinin chlorophyll protein (PerCP)-labeled anti-CD45 (BD) in bead-containing TRUCOUNT tubes (BD). After red cell lysis with a fixative-free reagent, the impermeant nucleic acid dye YO-PRO-1 (Molecular Probes, Eugene, OR) was added and samples were analyzed on a single-laser FACSCalibur (BD). A comparison with the ProCOUNT progenitor cell assay (BD) in 57 samples revealed excellent correlation of results (r = 0.98, intercept -0.2 cells/microl, slope 1.01). Precision studies conveyed coefficients of variation of 6.4 and 8.9% at concentrations of 35 and 16 CD34+ cells/microl, respectively. In untreated and leukocyte-enriched cord blood 4.5+/-3.8% of CD34+ cells were stained by YO-PRO-1, representing apoptotic or necrotic cells. In post-thawing cryopreserved samples this number increased to 10.4+/-5.5%. Isotype controls showed very low blank values of viable cells (0.1+/-0.4 cells/microl, maximum 2.4) and seemed unnecessary. We found no washing-related alteration of results in 35 samples, indicating that the method may also be performed with cell washing. Replacing YO-PRO-1 with TO-PRO-3 facilitated four-color analysis of subpopulations of viable CD34+ cells on a FACSCalibur equipped with a second (diode) laser. We found the proposed method to be a rapid, efficient, and flexible procedure that improved validity of CD34+ cell counts.

Antigens, CD34↗
PubMed2001

Ethnicity, gene flow, and population subdivision in Limón, Costa Rica.

In this paper we examine the effects of ethnicity on the gene flow between two groups living in Limón, Costa Rica. Our main interest is to determine if ethnicity has acted as a barrier to the exchange of genes, and if the groups have remained distinct genetically. We report the admixture estimates, F(st) values, and inbreeding coefficients of the two samples. The data consist of blood samples and surnames obtained from 375 individuals. The subjects' two surnames were analyzed to determine the ethnicity of their parents (individuals carry their father's and mother's first surnames). We used the formula of Crow and Mange ([1965] Eugen Q 12:199-203) to compute F(t), F(n), and F(r) with the surnames. Admixture estimates were computed for both groups using the computer program ADMIX.PAS kindly provided by Jeffrey Long. The estimates for the Hispanic-Limonense group are M1 = 0.5866 European, M2 = 0.3383 Amerindian, and M3 = 0.0751 African ancestry. For the Afro-Limonense group, the admixture estimates indicate M1 = 0.1047 European, M2 = 0.1357 Amerindian, and M3 = 0.7595 African ancestry. The F(st) values are F(st) = 0.00558 for the Hispanic group and F(st) = 0.05137 for the Afro-Limonense group. These F(st) values indicate that the Afro-Limonense group has experienced more genetic drift than has the other group, possibly as a result of its long history of isolation in Costa Rica. Indeed, when plotted along a scaled eigenvector R matrix of Caribbean gene frequencies, the two Limonense groups did not cluster with each other. Thus we conclude that the two ethnic groups have remained distinct breeding populations.

Adult↗
PubMed2000

Postelectrophoretic staining of proteins separated by two-dimensional gel electrophoresis using SYPRO dyes.

While the classical silver stain has been the method of choice for high sensitivity protein visualization on two-dimensional gel electrophoresis (2-D PAGE), post-electrophoretic fluorescent staining with the SYPRO group of dyes has emerged to challenge silver staining for proteome analysis. The latter offers improved sensitivity, higher dynamic range and easy handling. However, most of the published data were derived from analysis of 1-D gel separations. In this work, we have focused on three commercially available fluorescent dyes, SYPRO Ruby, SYPRO Orange and SYPRO Red (Molecular Probes, Eugene, OR, USA) and studied their sensitivity and dynamic range on 2-D PAGE. The use of a multiwavelength fluorescent scanner to image 2-D protein profiles visualized with fluorescent staining is discussed, and a detailed comparison with analysis by silver staining is also provided. These results demonstrate the advantages of using SYPRO dyes, which are in agreement with the literature based on 1-D gel electrophoresis, and give a more realistic understanding of the performance of these fluorescent dyes with 2-D PAGE.

Dextrans↗
PubMedDate not supplied

Issues in evolutionary medicine.

This paper illustrates the utility of applying evolutionary thought to medical issues with three examples: selection arenas, aging, and tradeoffs. First, the human female reproductive tract functions as a selection arena at two levels: in the ovaries, where atresia reduces the number of oocytes by more than 99.99% before any are ovulated, and in the uterus, where early embryos homozygous for immune genes are spontaneously aborted. These selective filters early in life have implications both for eugenics and for the anti-abortion movement. Second, the evolutionary theory of aging predicts that intrinsic mortality should reflect extrinsic mortality: if life for adults is risky, then it does not pay to invest in maintenance at the expense of reproduction. This idea is well confirmed, at least in populations where density effects are not important. While only organisms that reproduce asymmetrically should age, even bacteria reproduce asymmetrically, and they do age, suggesting that all organisms reproduce asymmetrically and therefore age. Third, tradeoffs are central to theories of phenotypic design, but the mechanisms that cause them remain obscure. A method is suggested to get at the mechanisms of tradeoffs by examining conflicts among functions over gene expression. It could be applied in humans to the tradeoff between reproductive performance and disease resistance.

Aging↗
PubMed1975

Genetic studies in the Markham Valley, northeastern Papua New Guinea: gamma globulin (Gm and Inv), group specific component (Gc) and ceruloplasmin (Cp) typing.

Genetic studies in the Markham Valley, northeastern Papua New Guinea; Gamma globulin (Gm and Inv), group specific component (Gc) and ceruloplasmin (Cp) typing. M. S. Schanfield, Eugene Giles and H. Gershowitz, Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48104. Immunoglobulin allotyping was carried out on 680 serum samples from inhabitants of the Markham Valley, Papua New Guinea (seven villages speaking the same Melanesian [PAP] speaking village). Family and population data verified the presence of Gm-ag, G-ab and Gm-afb among the MN speakers and Gm-ag, Gm-axg, Gm-ab and Gm-afb among the PAP speakers. The frequency of Gm-ag was between 0.048 and 0.235, while the frequency of Gm-ab was between 0.427 and 0.627 and the frequency of Gm-afb ranged between 0.261 and 0.424 among the seven MN villages; the single PAP village had frequencies of 0.568, 0.160, 0.213 and 0.059 for Gm-ag, Gm-axg, Gm-ab and Gm-afb respectively. The frequency of Inv1 ranged between 0.034 and 0.095 in the MN villages and 0.014 in the PAP village. The rare occurrence of Gm(x) without Gm(g) was explained by the presence of a Gm-axfb haplotype, while in two PAP families the presence of Gm(x) without Gm(g) was explained by the abnormally weak expression of Gm(g) in a Gm-axg haplotype. A total of 654 sera were typed for Gc, with the seven MN villages ranging between 0.350 and 0.650 for Gc-1, 0.312 and 0.575 for Gc-2 and between 0.017 and 0.112 for Gc-Ab; the single PAP village had a value of 0.627 for Gc-1, 0.165 for Gc-2 and 0.208 for Gc-Ab. A total of 693 sera were tested for ceruloplasmin type. All showed the common Cp(b) phenotype.

ABO Blood-Group System↗
PubMed2001

Viability, strength, and fragmentation of Saccharopolyspora erythraea in submerged fermentation.

Two fermentations of the commercially important erythromycin-producing filamentous bacterium Saccharopolyspora erythraea were conducted in defined media. One was glucose-limited and the other nitrate-limited. The viability of the hyphae was determined using the fluorescent stain BacLight (Molecular Probes, Eugene, OR). Also, the force required to strain hyphae to breakage was determined using micromanipulation and a sensitive force transducer. In both fermentations, fragmentation coincided with the appearance of regions in the mycelia with permeabilised membranes (considered nonviable). Under glucose-limitation, hyphal breaking force rose to 1,050 +/- 130 nN at the end of the growth phase and fell to an undetectable value as a result of glucose exhaustion. Under nitrate-limitation, hyphal breaking force fell from 900 +/- 160 nN during the growth phase to 550 +/- 40 nN in the stationary phase. In both cases image analysis showed that the dimensions of mycelia were of the same order, suggesting that the major factor influencing fragmentation was the appearance of nonviable regions (assumed to be weak). The location in which nonviable regions first appear within hyphae could not be determined because of their appearance coinciding with fragmentation.

Biomass↗