The crane's foot: The rise of the pedigree in human genetics

The standard pedigree used by geneticists is intimately connected to the history of genetics. Pedigrees drawn today are based on standards established in the early decades of the twentieth century. Those standards were established by geneticists who pursued an active interest in eugenics. The slightly different standards followed in America vs. England to some extent followed the stronger support of Mendelism by the Americans, as well as the individual preferences of the leading human geneticists in those countries.     

Offering predictive testing for Huntington disease in a medical genetics clinic: Practical applications

Predictive testing for Huntington disease is presently offered in a select few medical genetics centers in the United States. This is in part due to the labor intensive counseling and psychological testing suggested by the research protocols. We discuss some specific suggestions for establishing programs for Huntington disease predictive testing within pre-existing medical genetics clinics to encourage more centers to offer presymptomatic testing. This will allow more at risk individuals the opportunity to consider predictive testing and cut down the expenses of traveling to the few predictive testing centers that currently exist. The counseling principals will remain similar to those discussed here, even following the identification of the Huntington disease mutation.     

Development of knowledge bases and the reliability of a decision support system for behavioral treatment consultation for persons with mental retardation: The Mental Retardation-Expert

The development of expert and decision support systems requires the collection, organization, codification, and storage of a body of specialized knowledge. The development, using reconstructive methods, of two such knowledge bases, the first containing the current scientific literature and the second containing an expert’s knowledge, is described for an automated decision support system, the Mental Retardation-Expert. This system provides practitioners with assistance in the treatment of aggressive, self-injurious, and destructive behaviors displayed by individuals with mental retardation or developmental disabilities. The average interobserver reliability of the expert knowledge base ranged from 92.5% to 95.0% when calculated across four clinicians’ assessments of 31 abstracted cases.     

The importance of a holistic concept of health for health care. Examples from the clinic

One of my main points in this study is that the knowledge of orthodox medical theory is an incomplete guide for practical action when relating to our patients' specifically human problems. By following a holistic perspective on patients' health and on our medical enterprise we will be more efficient as doctors. This standpoint is illuminated by means of two case reports. Instead of focusing on symptoms as such and letting them refer to orthodox medical theory, I explicitly relate to the patients as if they are conveying a personal meaning by means of experienced symptoms. The experience of illness could be a successful strategy on the existential level although destructive on the technical biological level. A holistic theory of health can give doctors a good conceptual base when relating to people whose presented illnesses are to be regarded explicitly as their way of making themselves understood. The doctor's understanding of the patient's illness, of the theory of health, and of how health is regained, is dependent on the doctor's having the courage to reduce the distance to the patient, the courage to participate and be changed.     

Effects of spatial filtering and lack of effects of visual imagery on pattern-contingent color aftereffects

Checkerboards contain fundamental two-dimensional Fourier components oriented 45° from the edges of individual checks. Previous studies have shown that contingent color aftereffects following adaptation to chromatic checkerboard stimuli were associated with the fundamental components rather than the edges, In the present experiments, we measured contingent color aftereffects, using the method of constant stimuli, after subjects adapted to unfiltered checkerboards and checkerboards with the fundamental Fourier components removed. The adaptation stimuli were magenta (or green) squares and green (or magenta) diamonds; the test stimuli were vertical or oblique sine-wave gratings with different saturations, After adaptation to unfiltered checkerboards, aftereffects contingent on the fundamental components were obtained. In contrast, after adaptation to filtered stimuli, aftereffects of smaller magnitude were found to be aligned with the edges. The data support the previous findings of spatial-frequency-contingent color after-effects with checkerboard adaptation stimuli and indicate that the aftereffects can be associated with edges if the fundamental components of adaptation stimuli are removed by spatial filtering. We reexamined the possibility of color aftereffects induced by imagery of checkerboards. Contrary to the previous reports, no significant aftereffects were obtained.     

Asymmetries in the regulation of visually guided aiming

An experiment was conducted to examine the contribution of sensory information to asymmetries in manual aiming. Movements were performed in four vision conditions. In the full-vision condition (FV), subjects were afforded vision of both the hand and the target throughout the course of the movement. In the ambient-illumination-off condition (AO), the room lights were extinguished at movement initiation, preventing vision of the moving limb. In the target-off (TO) condition, the target was extinguished upon initiation of the movement. In a no-vision (NV) condition, ambient illumination was removed and the target was extinguished upon initiation of the response movement. Results indicated that accuracy was superior in the full-vision and target-off conditions and when movements were made by the right hand. Movements made by the right hand were also of shorter mean duration. The magnitudes of performance asymmetries were uninfluenced by vision condition. Analyses of movement kinematics revealed that movements made in conditions in which there was vision of the limb exhibited a greater number of discrete modifications of the movement trajectory. On an individual-trial basis, no relationship existed between accuracy and the occurrence of discrete modifications. These data suggest that although vision greatly enhances accuracy, discrete modifications subserved by vision reflect the imposition of nonfunctional zero-order control processes upon continuous higher-order control regimes.     

A Computational Model of the Simplest Motor Program

A computational procedure (program) is defined to generate control signals for the motoneuron pools of agonist and antagonist muscles that will move a limb segment from one stationary position to another. The program accounts for the ability to move different distances with different inertial loads and for the influence of instructions concerning movement speed and accuracy. These motor commands allow the program to produce EMG patterns as well as force and kinematic trajectories that are consistent with much of the data found in the literature of these movements. The program is premised on the notion that kinematically defined tasks are accomplished by programming commands to the motoneuron pools, based on only a few cognitively recognized kinematic and dynamic features of the task. Most of the features found in EMG and kinematic patterns can be considered consequences of the program's algorithmic procedures rather than specifically planned features of those movements.     

Parent and Teacher Ratings in the Assessment and Prediction of Antisocial and Delinquent Behaviors

ABSTRACT Subjects consisted of a sample of two cohorts of approximately 100 boys each whose behaviors were rated by their parents and teachers. Criterion variables included antisocial behavior, based on parent, child, teacher, and interviewer reports, and delinquency, based on parent and child reports in addition to cumulative arrest data taken from juvenile court records. The data suggest that mothers are focused on the daily, irritating behaviors of their sons. Teachers, on the other hand, appear to focus on a relatively small number of items (e.g., child physically attacks others, associates with deviant peers), and thereby provide ratings that are better predictors of delinquency and arrest. When the mothers' ratings were constrained to include only items that were salient for teachers, their predictive validity coefficients approached the magnitude of the teacher coefficients.     

Transitional phenomena as evidenced in prayer

In this paper, we demonstrate that the study of prayer facilitates understanding of the deeply personal object related nature of religious experience. Within prayer, individuals enter the transitional sphere and meet their God representation. Both conscious and unconscious aspects of prayer can be made available through the use of a projective test developed by the authors, known as STARR: Spiritual Themes and Religious Responses test. The data obtained suggest the usefulness of Winnicottian concepts of transitional phenomena, playing, communicating, and capacity to be alone as a contemporary psychoanalytic framework for interpreting religious experience.