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Goals, benefits, and outcomes of genetic counseling: client and genetic counselor assessment.

Most studies of outcomes of genetic counseling have focused on client knowledge, reproductive plans and behavior, or satisfaction. Other measures of the "value" of genetic counseling are needed to guide research assessing the impact of genetic counseling on individuals and populations, as well as to improve the process of providing care. To obtain input from providers, we conducted telephone interviews with six experienced genetic counselors, and then we held a focus group with 10 additional genetic counselors from a variety of practice settings. To obtain input from consumers, telephone interviews were also conducted with 19 past clients of these participating counselors. We found that counselor goals focus on meeting clients' needs, usually educating and providing psychosocial support. Clients often had few goals going into a session because they were unaware of what would be discussed or how the session would be structured. They usually did not expect to receive "counseling," and when they did, it was a welcome surprise. Both clients and counselors commented that a positive interpersonal interaction and "connecting" are primary measures of success. All clients appreciated the large amount of time spent with the counselor, and the manner (clear, comprehensive, and unhurried) of providing information. Many clients said that genetic counseling resulted in improved communication with their partners and other family members. Clients view the counselor as an "expert" and value the counselor as an on-going resource for both information and support. These "outcomes"f genetic counseling need to be assessed, and new measures must be developed.

Adult↗

Getting to goal in complex patients.

Traditionally, the term complex hypertension has been applied to patients who have clinical evidence of target organ damage. However, this definition can be expanded to include many hypertensive patients who either present without manifest disease but harbor silent concomitant organ damage, or belong to a high-risk group and are likely to develop such damage. Thus, the number of patients who deserve special consideration as complex patients is considerable. Various factors may contribute toward classifying a patient as having complex hypertension. These include severe hypertension, concomitant conditions such as diabetes, chronic renal insufficiency, coronary artery disease, orcongestive heart failure; and high-risk populations such as the elderly and African Americans. Recent evidence demonstrates that aggressive goal blood pressure (BP)-lowering therapy is the key toward halting the progression of vascular disease. Although the choice of initial therapy seems less important than achieving goal BP, the drug selected must impart efficacy, organ protection, and tolerability. Combination therapy consisting of calcium-channel blockers and angiotensin-converting enzyme inhibitors seems to achieve these desirable effects. Several clinical trials have demonstrated these agents to have favorable effects on BP and organ protection even in complex hypertension, particularly when used in combination.

Angiotensin-Converting Enzyme Inhibitors↗

School reintegration: a rehabilitation goal for spinal cord injured adolescents.

This article describes how the Education for All Handicapped Children Act of 1975, Public Law 94-142, assists in achieving the rehabilitation goal of school reintegration for spinal cord injured (SCI) adolescents. It also describes how subordinate goals are achieved during the inpatient rehabilitation phase. Comments from a survey of 13 SCI adolescents who returned to school demonstrate the need to prepare SCI adolescents for the services to which they are entitled, to acquaint them with ways of resolving possible problems they may encounter, and, when they return for follow-up care, to encourage them to continue in school.

Adolescent↗

Evaluating the adequacy of maximum contaminant levels as health-protective cleanup goals: an analysis based on Monte Carlo techniques.

At many sites in the United States, health-based remediation goals for contaminated groundwater have been set at levels far below USEPA's drinking water standards (i.e., maximum contaminant levels or MCLs). This is due to the fact that, while the USEPA must often consider technical and economic factors (e.g., cost of compliance, risk/benefit analysis) when setting MCLs for public water systems, cleanup goals for contaminated groundwater are often based solely on conservative "point" estimates of exposure. One of the more recent refinements in the risk assessment process is the use of ranges of exposure estimates or "probability density functions" (PDFs), rather than fixed point estimates, to estimate exposure and chemical uptake. This approach provides a more thorough description of the range of potential risks, rather than a single "worst-case" value, and allows one to understand the conservatism inherent in assessments based on regulatory default parameters. This paper uses a number of PDFs and the Monte Carlo technique to assess whether the USEPA's MCLs for drinking water are sufficiently low to protect persons exposed to these levels. A case study involving daily exposure to tapwater containing MCL concentrations of tetrachloroethylene, chloroform, bromoform, and vinyl chloride is presented. Several direct and indirect exposure pathways are evaluated, including inhalation and dermal contact while showering, direct ingestion, and inhalation of emissions from household fixtures and appliances. PDFs for each exposure factor are based on the most recent and applicable data available. Our analysis indicates that the estimated increased cancer risks at the 50th and 95th percentile of exposure are within the range of increased cancer risks typically considered acceptable at Superfund sites (10(-4)-10(-6)). These results suggest that, at least for some chemicals, groundwater need not be cleaned-up to concentrations less than drinking water standards (i.e., MCLs) to protect human health.

Air Pollutants↗

Adjustments of fast goal-directed movements in response to an unexpected inertial load.

Subjects made fast goal-directed elbow flexion movements against an inertial load. Target distance was 8 or 16 cm, randomly chosen. To exert a force in the direction of the movement subjects had to activate flexors of both shoulder and elbow, but shoulder flexors did not change appreciably in length during the movement. In 20% of the trials the inertial load was increased or decreased without knowledge of the subjects. Until 90-110 ms after the onset of the agonist muscle activity (about 65-85 ms after the start of movement) EMG activity was very similar in all conditions tested. The changes that occurred in the EMG from that moment on were effectively a later cessation of the agonist activity and a later start of the antagonist activity if the load was increased unexpectedly. If the load was reduced unexpectedly, the agonist activity ceased earlier and the antagonist activity began earlier. The latency at which EMGs started to change was the same for muscles around shoulder and elbow, for agonists and antagonists and for both distances. All adjustments had the same latency (37 ms) relative to the point where the angular velocity of the elbow in the unexpectedly loaded movements differed by 0.6 rad/s from the expected value. We discuss why simple reflex- or servo-mechanisms cannot account for the measured EMG changes. We conclude that appropriate adjustments of motor programmes for fast goal-directed arm movements start within 40 ms of the detection of misjudgment of load.

Arm↗

Misdirections in slow, goal-directed arm movements are not primarily visually based.

In a previous study we found that the initial direction of slow, goal-directed arm movements deviates consistently from the direction of the actual straight line between the starting position and the target position. We now investigate whether these deviations are caused by imperfections or peculiarities in the processing of vision-related spatial information, such as retinal information, and eye- and head-position information. This could lead to incorrect localization of the target relative to the starting position. Subjects were seated in front of a horizontal surface and had to move their arm slowly and accurately in the direction of target positions. We varied the amount of vision-related spatial information. In experiment 1, subjects were presented with visual targets and could see their moving arm. In experiment 2, the subjects were again presented with visual targets, but now they could not see their moving arm. In experiment 3, the subjects were blindfolded and had to move their arm towards tactile targets. In all three experiments we found comparable consistent deviations in the initial movement direction. We also instructed congenitally and early-blind subjects to move their arm towards tactile targets. Their performance showed deviations congruous with those found in the sighted subjects, and possibly somewhat larger. We conclude that the deviations in the initial movement direction of slow, goal-directed arm movements are not primarily visually based. The deviations are generated after all spatial information has been integrated.

Adult↗

Participation of the cerebellar dentate nucleus in the control of a goal-directed movement in monkeys. Effects of reversible or permanent dentate lesion on the duration and accuracy of a pointing response.

Experiments carried out on seven adult baboons were addressed at specifying the participation of the cerebellar dentate nucleus (DN) in the control of duration and accuracy of a goal-directed movement. The visuo-motor task used in this experiment involved trained pointing movement towards stationary target. The monkeys trained to point with the index finger to a target light were required to perform stereotyped movements of constant amplitude and direction, or movements with variable amplitude and direction. Duration of response execution was measured by movement time and accuracy by terminal spatial errors. We analysed the effects of excluding the DN on the arm ipsilateral or contralateral to the partially inactivated nucleus. Two techniques have been used to impair the DN activity: in three monkeys the structure was reversibly cooled with a chronically implanted thermode; in four others partial electrolytic destruction of the DN was performed. In the arm ipsilateral to the lesioned DN we observed modifications of movement times, appearance of systematic errors with increased dispersion. Contralateral effects were restricted to movement times. Changes in movement times and spatial errors were studied over time (4 months) in permanently lesioned animals. Only the spatial dispersion presented a total recovery. These data show that the DN is concerned with the control of speed and accuracy during the execution of visually triggered movements in monkeys. Moreover comparison of results concerning ipsilateral and contralateral effects of DN dysfunction on movement times and errors, and evidence of different time course of recovery in these variables, suggest a differential control exerted by the DN on speed and accuracy of goal directed movements.

Animals↗

Effects of unilateral brain damage on the control of goal-directed hand movements.

Insight into the functional neural substrates associated with the control of goal-directed purposive movements can be obtained through the study of the performance of individuals with brain damage. The control of rapid reciprocal aiming was investigated by comparing ipsilateral limb performance of subjects with unilateral brain damage to that of controls performing with the same limb. Thirty right-hand-dominant individuals, ten with right hemisphere stroke, ten with left hemisphere stroke, and ten age-matched controls performed unconstrained alternating tapping movements under three conditions of task complexity. The path of the stylus was recorded by video using two-dimensional kinematic techniques. Key kinematic features of the vertical and horizontal components of the trajectories were analyzed using both quantitative and qualitative methods. All subjects with brain damage showed prolonged movement times; however, the locus of the slowing depended on lesion side. Specifically, subjects with left stroke showed deficits in the open-loop component of the movement across all three conditions of task complexity, and a prolonged reversal phase surrounding target impact, particularly in the most complex condition. In contrast, subjects with right stroke showed deficits in the closed-loop phase of the movement prior to target impact, particularly in the most complex condition when visual information was necessary for accuracy. Together, these results suggest that for the control of rapid goal-directed aiming movements, the left hemisphere is dominant for task-relevant aspects of processing associated with the ballistic component and the timing or triggering of sequential movements. In contrast, the right hemisphere is dominant for processing associated with rapid, on-line visual information even when target location is known and direction is certain.

Aged↗

Does microstimulation evoke fixed-vector saccades by generating their vector or by specifying their goal?

Electrical stimulation was performed at several sites of the monkey's forebrain producing fixed-vector saccades when the eyes were steady. When the same stimulation was applied during or immediately after a spontaneous eye movement, the saccade trajectory was considerably modified: the eyes were driven, from wherever they were deviated by the spontaneous movement, to the point where the fixed-vector saccade would have brought them if the spontaneous movement had not occurred. This finding implies first, that saccades evoked from these sites are directed toward a goal and, a second, that the goal is defined with respect to an eye position sampled long in advance (before the spontaneous eye movement). This is consistent with the hypothesis that the electrical stimulation evoked the retinotopic representation of a target whose spatial coordinates were then computed at further stages to produce a saccade. Using the present paradigm, it may be possible to distinguish brain sites processing retinal error (at the visual stage) from those processing motor error (at the motor stage).

Animals↗

Rapid goal-directed elbow flexion movements: limitations of the speed control system due to neural constraints.

In rapid goal-directed elbow flexion movements the influence of both movement amplitude and inertial load on the three-burst pattern and the consequences on movement time were studied. Subjects performed visually guided, self-paced movements as rapidly and as accurately as possible. An increase of both the movement amplitude and the inertial load were found to be interacting factors for the modulation of the three-burst-pattern and movement time. The first biceps burst progressively increased in duration and amplitude for larger movements, resulting in prolonged movement times. Surplus inertial loads further prolonged the agonist burst for large, but not for small movement amplitudes. The activity of the antagonist burst, in contrast, was largest in small movements and successively decreased at increasing movement amplitudes. Its duration, however, remained fairly constant. As was similarly observed for the agonist burst, surplus inertial loads lead to a prolongation of antagonist burst duration and an small movement amplitudes. It is suggested that in elbow flexion movements the programming of fastest goal-directed movements must take into account neural constraints and biomechanical characteristics of the agonist muscle and the antagonist muscle. Due to neural constraints of the biceps muscle, in contrast to finger movements, the concept of movement time invariance does not hold for elbow movements. Furthermore, neural constraints of the antagonist muscle lead to a limited force production of the agonist muscle at small movement amplitudes in order to avoid an overload of the braking process.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

Cerebral potentials during smooth goal-directed hand movements in right-handed and left-handed subjects.

During smooth goal-directed hand movements a negative potential shift can be recorded from the human scalp. This goal-directed movement potential (GDMP) is preponderant over central areas with a maximum at the vertex and, over the motor cortex, contralaterally larger than ipsilaterally to the moving hand. In 11 right-handed and 6 left-handed subjects, the morphology and distribution of these potential shifts were studied in relation to task differences, moving hand and handedness. The results show a functional differentiation of two components of the GDMP: (1), a lateralized, slow negative wave, restricted to the precentral area and selectively varying with the hand used, and (2), a widespread, bilateral symmetrical component, selectively influenced by task-specific and individual factors. Two effects reflect an influence of the subject's handedness on the GDMP: (A) averaged for both hand conditions, there are larger amplitudes over the hemisphere contralateral to the dominant hand, and (b), averaged for both hemispheres, larger amplitudes result from using the non-dominant hand.

Adolescent↗

Design planning to meet goals in health service organizations. Concepts and illustration.

The performance of health service organizations is affected by the existence of multiple, often conflicting performance goals, and by various social-psychological processes that characterize the particular structure of the organization. This paper proposes a systematic, management-based methodology for identifying those "best" values for a set of social-psychological processes that enhance achievement of a set of organizational performance goals. The approach is illustrated with data from selected county health departments in North Carolina.

Health Services Administration↗

Gas Man--an example of goal oriented computer-assisted teaching which results in learning.

Gas Man is an educational computer simulation program. The goal of the program is for the user to learn the theory and application of inhalation anesthesia uptake and distribution. The program and accompanying text are designed to be used by medical students, pharmacy students, anesthesia residents, nurses, practicing anesthesiologists, and medical equipment technicians and engineers. After using the program, the learner should understand the time course of patient response to inhalation anesthesia. He should know the factors which influence patient response and be able to predict their impact in specific situations. The key to Gas Man's success are: A well-defined and valid educational goal, teaching anesthesia uptake and distribution. An identifiable and testable set of educational objectives. A specific set of learner tasks to achieve those objectives, the actual simulation exercises. The appropriate educational medium, computer simulation and graphics. Effective software implementation, the Gas Man Program.

Anesthesia, Inhalation↗

Physiological profiles and therapeutic goals--graphical aids support quick orientation in intensive care.

Although present-day technical facilities and modern patient monitoring produce an overwhelming number of measured parameters in intensive care medicine, there is a great need to develop decision aids to enable ICU personnel to become quickly orientated in the pathophysiological state of the patients under their care. One possible way for the representation of a multidimensional pattern of physiological values is the graphical display of a physiological profile of a patient's state. A combination of this display and the concept of 'therapeutic goals' is well suited for reducing the complexity of the computer output and for aiding in the necessary decisions in a twofold manner: substantial deviations of a single parameter are instantly visible and may be checked for their causes, the physician obtains an impression of the most serious deviations from the intended therapeutic goal for his patient. So she/he can act to support the patient in achieving the most likely course for recovery.

Computer Graphics↗

Goals to guide the interactions of the mental health and justice systems.

Interactions occur routinely between the mental health and justice systems, yet they are hindered by misunderstandings and misconceptions regarding their proper course. In addition, a number of outside forces shape these interactions and complicate efforts to improve them. In order to more clearly delineate and facilitate these interactions, 50 professionals concerned with these interactions were assembled as part of a symposium on the interactions of the justice and mental health systems. One of the primary tasks was to identify goals to direct these interactions. This article describes and categorizes the goals that were generated.

Communication↗

Ethicians, ethicists and the goals of clinical ethics consultation.

We believe that clinical ethics consultation (CEC) has as its goal the delivery of healthcare in a manner consistent with the moral rules and the moral ideals. Towards this end, CEC pursues the instrumental ends of clarifying the limits of acceptable ethical disagreement and facilitating a choice among ethically acceptable alternatives. In pursuing these ends, healthcare ethics consultation (HEC) and CEC services confront three broad categories of questions: (1) questions of professional duty; (2) questions of law; and (3) questions of general morality. Professional duty questions concern what has been referred to as the "internal morality of medicine", and include questions such as the medical legitimacy of the goal(s) being pursued, or the acceptability of the means being employed. Questions of law concern themselves with what the law requires, permits or prohibits. Questions of general morality include all those not falling within the scope of the above categories. We submit that this has implications for the organization and structure of consultation services and HEC and for the methodology and processes employed in CEC. Thus: (1) questions of professional duty should be addressed only by physician members (whom we would distinguish by employing the term "ethicians") of the HEC or CEC service. The only role for non-ethicians under these circumstances would be in helping to resolve disagreements between/among professionals; (2) questions of law, in contrast, should be addressed only by the attorney member(s) of the HEC or CEC service; (3) questions of general morality may be addressed by the entire membership of the HEC or CEC service.

Consultants↗

Programming of the goal-directed behavior and association systems of the brain.

The organism functions in surroundings which are organized according to probability and determine the development of the ability for probabilistic prognosis of goal-directed performance. Probabilistic programming of behavior is assumed to be based on dominant motivation, previous experience (genetic and ontogenetic), and the estimation of the current situation as stored in short-term memory. Association thalamocortical systems of the brain appear to possess basic structural-functional requisites to evaluate their role in the mechanisms of probabilistic prognosis. A hypothetical diagram is given to illustrate the functional structure of a goal-directed behavior based on the dominant mechanisms.

Animals↗