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Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency.

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a common autosomal-recessive disorder. During our routine genotyping of affected individuals and their relatives using allele-specific oligonucleotide hybridization and single-strand conformational polymorphism analysis, we identified two families each segregating three mutations. In both families, a mutation known to be associated with 21-hydroxylase deficiency was identified in healthy individuals but was not detected in the propositus. The propositus in family 1 was shown to be a homozygous carrier for G at nucleotide 655, which alters the splice acceptor site at exon 3. The propositus in family 2 carried the same splicing mutation on the maternal allele and a gene deletion/conversion on the paternal allele. In both families, other clinically unaffected relatives carried the Q318X mutation in exon 8. If molecular diagnostic studies had been limited to the mutation carried by the propositi, relatives would have been misinformed regarding their status as carriers or mildly affected individuals. The findings in these two families emphasize the high frequency of alleles causing 21-hydroxylase deficiency in the population.

Adrenal Hyperplasia, Congenital↗

Economic evaluation and mental health: sparse past. fertile future?

BACKGROUND: Demands for economic inputs to mental health policy-making, practice decisions and research evaluations have grown considerably in recent years, but the overall supply response has been modest and uneven. AIMS: This paper examines the key historical phases in the development of mental health economics research, and what they imply for the way economics is received and employed. Focusing on the quest for cost-effectiveness, the paper considers challenges for mental health economics. METHODS: An informal review of the growing demand for mental health economics (and how that demand has been expressed), and how economists have responded. RESULTS: Five historical development phases characterize this growth. Initially, the dominant feature is innocence or neglect of scarcity. Cost measures are rarely calculated, cost-effectiveness is not part of the decision-making lexicon and the potential for inefficiency is huge. In the second phase, innocence turns to criticism of attempts to introduce resource rationality, and many clinicians actively reject economics. Health is seen as priceless, and not to be compromised by the pursuit of efficiency. After a period of reluctance there follows impetuosity as the need for economic insights is recognized, but the search for data is desperate and undiscriminating. Poor quality research is conducted, with the risk that decisions are misinformed and perhaps damaging. Once again, resources are inappropriately used. Next follows the constructive development phase: previous mistakes are appreciated and the standards of evaluation improve markedly. Studies are better designed, more likely to be integrated into clinical or policy evaluations, carefully conducted and sensibly interpreted. Inefficiency should be reduced, along with inequity. Finally, there is perhaps a nirvana-like fifth phase in which sophisticated economic studies are widely undertaken, where systematic reviews and meta-analyses help to reveal the wider picture and where findings are readily available to clinicians, managers and providers. Whether such a stage is attainable is open to question. DISCUSSION: Although the number and sophistication of economic evaluations have both increased noticeably over recent years, there remain imbalances. There is little economics evidence on care arrangements or treatments for dementia, most of the neuroses and the disorders of childhood and adolescence. There are many fewer good evaluations of psychological interventions than of drug treatments. Geographically, few economic evaluations are conducted outside Western Europe, North America or Australasia. IMPLICATIONS FOR DECISION-MAKERS AND RESEARCH: Many challenges consequently face the next generation of mental health economics evaluations, both for research economists and for those health care decision-makers who find themselves increasingly having to draw on economics evidence. One challenge is to be fully aware that the information that economists can currently offer may fall short of what decision-makers need. The gap between the two must be fully appreciated. Building more comprehensive pictures of the cost and outcome consequences of different care policies and treatment interventions is one way to bridge this gap. At the same time a sense of perspective must be maintained and promoted. For example, there is growing concern across the world about the high prices of new drugs, yet drug acquisition costs usually represent only a small proportion of total costs. Decisions sometimes appear to be disproportionately focused on small parts of the overall mental health care picture. A similar tendency prompts another challenge, which is to undertake and interpret research so as to overcome, or at least not to exacerbate, the boundary problems that characterize the multi-service, multi-agency reality of many mental health care systems. The adequacy of short-term evaluations - which dominate our field - must be questioned in light of the chronicity of many mental health problems, and of their externality effects (including inter-generational transmission of problems). Although funding will always be a problem, longer-term evidence is needed. So, too, is research that looks at the reasons for inter-individual cost and outcome variations. Economic evaluations should also pay more attention to equity as well as efficiency as a criterion of improved resource allocation. Finally, more economic data should be gathered alongside and not after clinical data, particularly as economic assumptions often appear to drive key practice and policy changes.

Journal Article↗

Issues in mammography.

The goals of screening mammography are reproducibly optimum images, accurately interpreted, at the lowest possible cost. This can reduce the mortality from breast cancer. Despite this, screening mammography has not been widely used because of the controversy over the age at onset and interval of screening, charge for the examination, misinformed primary care physicians, uninformed women, and other factors. The American College of Radiology's educational efforts and mammography accreditation program are overcoming some of these obstacles.

Adult↗

Knowledge and beliefs about cancer in a socioeconomically disadvantaged population.

Americans living in poverty experience a higher incidence of and greater mortality from cancer than the nonpoor. At least 50% of the difference in mortality is believed to be due to delay in diagnosis, although risk-promoting lifestyles and behaviors also contribute to decreased survival. A potential exacerbating factor among the poor is inadequate information and knowledge about cancer and its treatment. Interviews were conducted with 128 cancer patients from a socioeconomically disadvantaged population to assess knowledge of cancer and its treatment and to evaluate care-seeking behaviors. Results indicated that although patients relied primarily on their physicians for information about their disease and treatment, a number of misconceptions regarding cancer existed in this population. Notably, nearly 50% of the patients surveyed either denied or did not know that smoking was related to the development of cancer. Additionally, patients frequently reported inappropriate care-seeking behaviors when asked to respond to a series of common disease-related signs or symptoms. These findings suggest that misinformation and misconceptions regarding cancer and its treatment among patients in this sample may contribute to inappropriate care-seeking behaviors.

Consumer Behavior↗

Beliefs and attitudes of Samoan women toward early detection of breast cancer and mammography utilization.

BACKGROUND: Among Pacific Islanders in Hawaii, the breast has been the foremost cancer site. Among Samoans, it is a leading cancer site along with sites for respiratory cancers. A recent study reported that cancer has been diagnosed at relatively advanced stages in younger Samoans. METHODS: An exploratory, qualitative design was used with a semi-structured, open ended, talk story interview with Samoan women aged 40 years and older who spoke English and who had no personal history of breast cancer. The coding of interviews was validated with a faculty member unrelated to the study. Interviews were stopped at 15 participants once thematic patterns were saturated. Content analysis was performed. Triangulation to validate results was performed with research assistants and one participant. RESULTS: Participants ranged from 40-73 years of age, had lived in the U.S. 3-40 years, and most were married, born in Samoa or American Samoa, and had health insurance. Their education ranged from ninth grade to some college. Their health promotion activities included eating right, exercising, immunizing their children, and visiting their physician for an annual examination. Most had had positive or neutral experiences with western health care. Most reported that they would use Samoan medicine if available. Priorities reported were health, family, and education. Women considered the care and health of their families their responsibility. All had negative perceptions of cancer. Most had had mammograms. Reported major barriers to mammography were fear, not a priority, and pain. Reported major motivators were physician recommendation, prevention, and fear. Over half of the women reported concern over their breasts being touched either by themselves or by others. CONCLUSIONS: The study participants had strong beliefs that cancer meant death and, therefore, no cure. Samoan women emphasized the health and education of their families and their role in family health care. Therefore, health care providers should promote health and breast screening by emphasizing that family health care also means caring for oneself. Although Samoan women reported that they used western health care, most women also were willing to use traditional Samoan medicine if it was available. Their understanding the causes of cancer included currently accepted explanations and uncommonly accepted views of causation. Correcting misinformation, teaching, addressing fears (motivators as well as barriers), using female health providers for screening, conveying respect for privacy and person, reinforcing that examination of the breast is not sexual, and gently handling breasts during examinations are important considerations for the prevention of breast cancer in Samoan women.

Adult↗

Alcohol: a description and comparison of recent scientific vs. public knowledge.

Sought to survey alcohol research since the "rediscovery" of fetal alcohol syndrome (FAS) and to compare recent scientific knowledge with that of the general public. Research was found to concentrate on searching for explanations of alcohol use and/or abuse and on several areas of biological morphogenesis. Significant documentation exists for FAS and validates both physiological and developmental attributes. As an index of public knowledge, an alcohol questionnaire was administered to 190 high-school, college, and graduate students. True-false items represented statements relative to the nature, etiology, effects, variables, and consequences of alcohol use/abuse. The composite mean of less than 60% correct suggested significant misinformation and misconceptions about alcohol. A summary of the most dramatic informational deficits was presented. There was a positive, though minimal, relationship between alcohol knowledge and education, and both sex and race differences were noted.

Adolescent↗

Hedlund paranoia.

A brief review of Tarasoff vs. Regents of University of California (1976) 17 Cal.3d 425 is presented, followed by several important issues that have emerged from that decision. Tarasoff's most recent progeny, Hedlund vs. Superior Court (1983) 34 Cal.3d 695, then is reviewed in light of Tarasoff and current tort law in California. It is asserted that the Hedlund decision has been egregiously misread and that many psychologists consequently are painfully misinformed.

California↗

Radiation-induced disease.

The term radiation covers a wide spectrum of forms of energy, most of which have at one stage or another been suspected of causing human ill health. In general, study of the effects of radiation on health involves a mix of scientific disciplines, from population epidemiology to physics, which are seldom if ever found in a single scientist. As a result, interdisciplinary communication is of the utmost importance, and is a potent source of misunderstanding and misinformation. The forms of radiation which have been most specifically associated with health effects include ionizing and ultraviolet radiation. Claimed effects of electromagnetic and microwave radiation (excluding thermal effects) are too indefinite for detailed consideration. Ionizing radiation is a well-documented mutagen, which clearly causes cancers in humans, and human exposure has been increased by atomic weapons testing and medical and industrial uses of radioactivity. There is also a growing awareness of the possible role of some types of natural radiation, such as radon, in causing disease. Ultraviolet radiation is also associated with cancers, and is suspected of involvement in the increasing incidence of skin cancers in European populations. Factors thought to underlie recent changes in exposure to these mutagens are discussed.

Animals↗

Measurement of intracellular pH in mammalian sperm cells under physiological conditions.

The goal of this study was to develop a technique for the measurement of intracellular pH (pHi) in living mammalian (bovine) sperm cells under physiological conditions. Like many other biochemical measurements, pHi measurements have typically been made under non-physiological conditions on cells whose immediate functional status is not readily assessed and may even be non-viable. Additionally, many pHi measurement techniques may themselves alter the pHi of the cells being measured. Such measurements could yield misinformation. The sperm cell is unique in that its functional status can be easily and continuously monitored by means of its motility, which is directly affected by pHi. In this respect, the sperm cell provides an ideal model system for evaluating pHi measurement techniques. In this article we summarize the validation of a ratiometric absorbance technique for the measurement of pHi of mammalian (bovine) sperm cells under physiological conditions which does not affect their functional status. The pHi of ejaculated bovine sperm cells was calculated to be 6.9 +/- 0.05 (11 replicates). This approach may also be suitable for pHi measurements in other cell types.

Animals↗

Wots that werd? Pseudowords (non-words) may be a misleading measure of phonological skills in young learner readers.

Pseudoword (non-word) reading tasks are a commonly used measure of phonological processing across diverse fields of reading research. However, whether pseudoword reading gives any more information about phonological processing in young learner readers than does the reading of real words has seldom been considered. Here we show that pseudoword and real word reading are so strongly correlated (r=0.94) in the first 4 years of school as to be representative of the same construct. Two of the subskills of phonological processing, phonological awareness and rapid automatic naming also predict almost identical amounts of variance in pseudoword and real word reading. A divergence in the correlations between word and pseudoword reading and phonological awareness and rapid naming only emerges in the fourth year, while a significant correlation between phonological awareness and rapid automatic naming is evident only in the first year of schooling. Thus these results suggest that, at least in young children learning to read, care should be taken when using pseudoword reading to measure either phonological processing ability or phonological awareness as this may misinform the choice of therapy for a child showing symptoms of dyslexia.

Awareness↗

Just say no to psychotropic drugs!

Prescribing drugs for mental disorders by psychologists means accepting an invalid model--the brain disease, biological-defect explanation of psychopathology--that is advanced by political conservatives and accepted by some naive, well-intentioned, but misinformed moderates who have not thought critically about the issue. Conservative psychiatry serves the ruling class by rejecting or ignoring the fact that most mental disorders are learned in the context of social and economic injustice, and familiar dysfunction. If we accept the fallacy of brain disease and genetic defect as the major causes of mental disorder and succeed in getting prescription privileges we will have sold our soul to the devil!

Drug Prescriptions↗

Stigma and other determinants of participation in TANF and Medicaid.

We developed a conceptual framework to examine the association between stigma, enrollment barriers (e.g., difficult application), knowledge, state policy, and participation in the Temporary Assistance to Needy Families (TANF) and adult Medicaid programs. Survey data from 901 community health center patients, who were potential and actual participants in these programs, indicated that while images of the Medicaid program and its recipients were generally positive, stigma associated with welfare stereotypes reduced both TANF and Medicaid enrollment. Expectations of poor treatment when applying for Medicaid, enrollment barriers, and misinformation about program rules were also associated with reduced Medicaid enrollment. States that enacted strict welfare reform policies were potentially decreasing TANF participation, while states with more simplified and generous programs were potentially increasing Medicaid participation. The results suggest that the image of the adult Medicaid program remains tied to perceptions about welfare and provides guidance to policymakers about how to improve participation rates.

Adult↗

Bayesian inference on the patient population size given list mismatches.

In applying capture-recapture methods for closed populations to epidemiology, one needs to estimate the total number of people with a certain disease in a certain research area by using several lists with information of patients. Problems of lists error often arise due to mistyping or misinformation. Adopting the concept of tag-loss methodology in animal populations, Seber et al. (Biometrics 2000; 56:1227-1232) proposed solutions to a two-list problem. This article reports an interesting simulation study, where Bayesian point estimates based on improper constant and Jeffreys prior for unknown population size N could have smaller frequentist standard errors and MSEs compared to the estimates proposed in Seber et al. (2000). The Bayesian credible intervals based on the same priors also have super frequentist coverage probabilities while some of the frequentist confidence intervals procedures have drastically poor coverage. Seber's real data set on gestational diabetics is analysed with the proposed new methods.

Bayes Theorem↗

Teratogen update: clinical aspects of thalidomide embryopathy--a continuing preoccupation.

There is much misinformation in the medical community regarding the thalidomide syndrome. Some physicians and scientists are unaware of the fact that organs other than the limbs were frequently affected. Some believe that thalidomide could produce any type of limb reduction defect. Most were aware of the very narrow period of early organogenesis during which the thalidomide-type malformations could be produced. Important features include the fact that limb reduction defects were primarily preaxial, included concomitant girdle hypoplasia when limb reductions were severe, were almost universally bilateral and did not include distal transverse-type defects often called "hemimelia". While it can be said that some spontaneous (non-thalidomide) malformations can mimic the thalidomide syndrome, it can also be said that many limb reduction defects can be determined not to have been produced by thalidomide. The risks of the various defects can be estimated following exposure, with most certainty for limb defects, with less certainty for other defects. Many defects were not associated with exposure to thalidomide such as cleft lip and severe mental retardation.

Abdomen↗

Prevention of unnecessary pregnancy terminations by counselling women on drug, chemical, and radiation exposure during the first trimester.

As part of a new approach to counselling pregnant women concerned about antenatal exposure to drugs, chemicals, or radiation, we measured their tendency to terminate their pregnancy by using a visual analogue scale (VAS). Analysis of 78 cases where women had less than 50% tendency to continue pregnancy before they were advised by us reveals that 61 decided to continue their pregnancy after the consultation (57 normal, healthy infants, four miscarriages) and 17 terminated. Women who continued their pregnancy significantly changed their tendency after we discussed relevant information with them (from 34.3 +/- 2.5% to 84.5 +/- 3.3%, P less than 0.00001), whereas most of those who eventually terminated pregnancy did not change their tendency to continue pregnancy beyond the 50% mark (from 24.8 +/- 5.4% to 45.1 +/- 9.8%) (P greater than 0.1). Only two of the women who terminated their pregnancy were exposed to teratogenic drugs; however, in most other cases, other obvious reasons, unrelated to the exposure in question, were identified by the women as leading reasons for termination. An appropriate intervention in early pregnancy can prevent unnecessary pregnancy terminations by correcting misinformation and thereby decreasing the unrealistically high perception of risk by women exposed to nonteratogens.

Abortion, Induced↗

Do chimpanzees know what conspecifics know?

We conducted three experiments on social problem solving by chimpanzees, Pan troglodytes. In each experiment a subordinate and a dominant individual competed for food, which was placed in various ways on the subordinate's side of two opaque barriers. In some conditions dominants had not seen the food hidden, or food they had seen hidden was moved elsewhere when they were not watching (whereas in control conditions they saw the food being hidden or moved). At the same time, subordinates always saw the entire baiting procedure and could monitor the visual access of their dominant competitor as well. If subordinates were sensitive to what dominants did or did not see during baiting, they should have preferentially approached and retrieved the food that dominants had not seen hidden or moved. This is what they did in experiment 1 when dominants were either uninformed or misinformed about the food's location. In experiment 2 subordinates recognized, and adjusted their behaviour accordingly, when the dominant individual who witnessed the hiding was replaced with another dominant individual who had not witnessed it, thus demonstrating their ability to keep track of precisely who has witnessed what. In experiment 3 subordinates did not choose consistently between two pieces of hidden food, one of which dominants had seen hidden and one of which they had not seen hidden. However, their failure in this experiment was likely to be due to the changed nature of the competition under these circumstances and not to a failure of social-cognitive skills. These findings suggest that at least in some situations (i.e. competition with conspecifics) chimpanzees know what conspecifics have and have not seen (do and do not know), and that they use this information to devise effective social-cognitive strategies. Copyright 2001 The Association for the Study of Animal Behaviour.

Journal Article↗

Knowledge, attitudes and behaviours related to HIV and AIDS among chinese adolescents in hong kong.

The purpose of this study was to assess HIV and AIDS knowledge and attitudes, source of HIV and AIDS information, and behaviours related to HIV and AIDS among Chinese adolescents in Hong Kong. Participants included 1259 (826 females and 433 males) Chinese adolescents in Hong Kong between 12-18 years of age. Findings revealed that over 80% of the adolescents had rarely or never discussed HIV and AIDS with their family or teacher, and the primary source of HIV and AIDS information was media sources such as television and newspapers. Findings revealed HIV and AIDS misinformation among both male and female adolescents in the areas of transmission, facts, personal vulnerability and attitudes. However, participants reported engaging in little at-risk behaviour associated with HIV and AIDS. Implications for HIV and AIDS education and prevention are discussed.

Acquired Immunodeficiency Syndrome↗

Does the nature of the experience influence suggestibility? A study of children's event memory.

Two experiments examined the effects of event modality on children's memory and suggestibility. In Experiment 1, 3- and 5-year-old children directly participated in, observed, or listened to a narrative about an event. In an interview immediately after the event, free recall was followed by misleading or leading questions and, in turn, test recall questions. One week later children were reinterviewed. In Experiment 2, 4-year-old children either participated in or listened to a story about an event, either a single time or to a criterion level of learning. Misleading questions were presented either immediately or 1 week after learning, followed by test recall questions. Five-year-old children were more accurate than 3-year-olds and those participating were more accurate than those either observing or listening to a narrative. However, method of assessment, level of event learning, delay to testing, and variables relating to the misled items also influenced the magnitude of misinformation effects.

Age Factors↗