The growing interest and major advances of the last decades in evolutionary developmental biology (EvoDevo) have led to the recognition of the incompleteness of the Modern Synthesis of evolutionary theory. Here we discuss how paleontology makes significant contributions to integrate evolution and development. First, extinct organisms often inform us about developmental processes by showing a combination of features unrecorded in living species. We illustrate this point using the vertebrate fossil record and studies relating bone ossification to life history traits. Second, (...) we discuss exceptionally preserved fossils that document rare ontogenetic sequences and illustrate this case with the patterns of heterochrony observed in Cambrian crustacean larvae preserved three-dimensionally. Third, most fossils potentially document the evolutionary patterns of allometry and modularity, as well as some of the (paleo)ecological factors that had influenced them. The temporal persistence of adaptive patterns in rodent evolution serves to address the importance of ecological constraints in evolution. Fourth, we discuss how the macroevolutionary patterns observed in the tetrapod limb, in the mammal molar proportions, and in the molluscan shell provide independent tests of the validity of morphogenetic models proposed on living species. Reciprocally, these macroevolutionary patterns often act as a source of inspiration to investigate the underlying rules of development, because, at the end, they are the patterns that the neo-Darwinian theory was unable to account for. (shrink)

Given the sensitive nature of trauma-focused research, it is important that researchers understand the impact of research participation on study participants. The current study examined the relationship between type of child abuse, psychological adjustment, and self-reported participatory distress in 105 female adult survivors of childhood abuse. Several key findings emerged: (a) overall, participants reported low levels of participatory distress; (b) greater levels of participatory distress were reported by sexual abuse survivors and were associated with higher scores on depressed mood and (...) posttraumatic stress; and (c) posttraumatic stress symptomatology served as a mediator in the relationship between abuse type and participatory distress. The findings inform researchers and members of Institutional Review Boards on variables related to participatory distress in studies of child abuse. (shrink)

Augustine presents the unfolding of the nuptial mystery as a unitary tapestry on which the image of the Wedding of Christ-Church gradually emerges, and also its fulfillment in the Love of the man for the woman. The event of salvation is a nuptial mystery, the fruit of which is a new creation, through the participation in Christ’s Trinitarian communion. Every faithful can receive this gift which brings the mystery of the risen Christ back into life. This circularity of the Trinitarian, (...) Christological and anthropological layers of the mystery, find their point of convergence in the caritas. What Augustine synthesizes in an original way is this dynamic relationship, that is based in the circularity of the layers, through the role of the Spirit. The gift of charity founds unity in communion, being one and one body only in Christ. Thus, the Christians, thanks to Eucharistic and sacramental unity, become ‘members’ of the one Church-Bride, in which all form one Body. Marriage and virginity reveal themselves to be the two dimensions of the journey that human love takes, guided by the Spirit, to reach the fullness of divine love. Thus, in the ‘we’ of love, the divine ‘We’ is made present, and through “living in love” “the light of God” enters into the world. (shrink)

Uncertainty about the acceptability of the forest industry and its practices to the citizens of Mississippi provided the impetus for a study of the attitudes and perceptions of eight constituency groups toward the forest industry in the state. This study examines attitudes and perceptions of two of those groups, loggers and two environmentalists/conservationists, and finds similarities and differences. Survey data analysis finds that all groups hold similar perceptions of themes defining the forest industry and forest industry occupations but differ concerning (...) activities the industry does or does not perform well and environmental problems associated with the forest industry. Mississippi Loggers Association members hold more positive attitudes/perceptions, similar to those of the Mississippi Wildlife Federation. Attitudes/perceptions of Mississippi 2020, a small grassroots organization, differ from Mississippi Loggers Association members in all instances and from Mississippi Wildlife Federation members on some issues. (shrink)

Hundreds of thousands of individuals experience traumatic injuries each year. Some are mild to moderate in nature and patients experience full functional recovery and little change to their physical appearance. Others result in enduring, if not permanent, changes in physical functioning and appearance. Reconstructive plastic surgical procedures are viable treatments options for many patients who have experienced the spectrum of traumatic injuries. The goal of these procedures is to restore physical functioning and reduce the psychosocial burden of living with an (...) appearance that may be viewed negatively by the patient or by others. Even after receipt of reconstructive procedures, many patients are left with residual disfigurement. In some, disability and disfigurement may be so profound that individuals are candidates for vascularized composite allotransplantation procedures, i.e., the transplantation of a vascularized human body part containing multiple tissue types as an anatomical and/or structural unit. This narrative review paper summarizes the literature on the psychosocial burden experienced by those who have visible disfigurement. While many of these individuals experience stigma and discrimination, relatively few studies have employed a stigma framework to understand the psychosocial sequelea. This paper briefly addresses this framework. Last, particular focus is given to the psychosocial issues of individuals with particularly severe injuries who are potential candidates for VCA procedures. (shrink)

RationaleSurrogates of critically ill patients often have inaccurate expectations about prognosis. Yet there is little research on how intensive care unit clinicians should discuss prognosis, and existing expert opinion-based recommendations give only general guidance that has not been validated with surrogate decision makers.ObjectiveTo determine the perspectives of key stakeholders regarding how prognostic information should be conveyed in critical illness.MethodsThis was a multicenter study at three academic medical centers in California, Pennsylvania, and Washington. One hundred eighteen key stakeholders completed in-depth semistructured (...) interviews. Participants included 47 surrogates of adult patients with acute respiratory distress syndrome; 45 clinicians working in study ICUs, including physicians, nurses, social workers, and spiritual care providers; and 26 experts in health communication, decision science, ethics, family-centered care, geriatrics, healthcare disparities, palliative care, psychology, psychiatry, and critical care.Measurements and main resultsThere was broad support among surrogates for existing expert recommendations, including truthful prognostic disclosure, emotional support, tailoring the disclosure strategy to each family's needs, and checking for understanding. In addition, stakeholders offered suggestions that add specificity to existing recommendations, including: In addition to conveying prognostic estimates, clinicians should help families "see the prognosis for themselves" by showing families radiographic images and explaining the clinical significance of physical manifestations of severe disease at the bedside. Many physicians did not support using numeric estimates to convey prognosis to families, whereas many surrogates, clinicians from other disciplines, and experts believed numbers could be helpful. Clinicians should conceptualize prognostic communication as an iterative process that begins with a preliminary mention of the possibility of death early in the ICU stay and becomes more detailed as the clinical situation develops. Although prognostic information should be initially disclosed by physicians, other members of the multidisciplinary team-nurses, social workers, and spiritual care providers-should be given explicit role responsibilities to reinforce physicians' prognostications and help families process a poor prognosis emotionally.ConclusionsFamily members, clinicians, and experts identified specific communication behaviors that clinicians should use to discuss prognosis in the critical care setting. These findings extend existing opinion-based recommendations and should guide interventions to improve communication about prognosis in ICUs. (shrink)

Genomic research projects that collect tissues from deceased organ and tissue donors must obtain the authorization of family decision makers under difficult circumstances that may affect the authorization process. Using a quasi-experimental design, the Ethical, Legal, and Social Issues (ELSI) substudy of the Genotype-Tissue Expression (GTEx) project compared the recall and understanding of the donation authorization process of two groups: family members who had authorized donation of tissues to the GTEx project (the comparison group) and family members who had authorized (...) organ and tissue donations in years previous, who subsequently participated in two different mock-authorization processes that mimicked the GTEx authorization process (the intervention groups). Participants in the comparison and intervention groups were matched on key demographic characteristics.We found that participants in the intervention groups who experienced a mock-authorization process demonstrated better recall of the tissue donation request than members of the comparison group. Our data indicate that the stress associated with the loss of a loved one limited the ability of family members to recall details about the GTEx project. However, we found a similar lack of knowledge in both the comparison and the intervention group participants, suggesting lack of knowledge may be due to the complexity and unfamiliarity of the information presented to them during the authorization process. We discuss these findings in the context of everyday clinical decision making in cognitively challenging conditions. (shrink)

We propose the “grammatical profile” as a means of probing the aspectual behavior of verbs. A grammatical profile is the relative frequency distribution of the inflected forms of a word in a corpus. The grammatical profiles of Russian verbs provide data on two crucial issues: a) the overall relationship between perfective and imperfective verbs and b) the identification of verbs that characterize various intersections of aspect, tense and mood (TAM) with lexical classes. There is a long-standing debate over whether Russian (...) aspectual “pairs” are formed only via suffixation (the Isacenko hypothesis) or whether they are formed via both suffixation and prefixation (the traditional view). We test the Isacenko hypothesis using data on the corpus frequency of inflected forms of verbs. We find that the behavior of perfective and imperfective verbs is the same regardless of whether the aspectual relationship is marked by prefixes or suffixes; our finding thus supports the traditional view. Introspective descriptions of Russian aspect have often connected the use of particular inflectional forms with certain uses of aspect; for example, the use of imperative forms with the imperfective aspect to produce expressions that are very polite. Grammatical profiles make it possible to identify verbs that behave as outliers, presenting unusually large proportions of usage in parts of the paradigm. This analysis both gives substance to and extends previous introspective descriptions by identifying the verbs most involved in certain TAM-category interactions. On a methodological level, this study contributes to current discussions on the use of inflected forms vs. lemmas in corpus studies. Newman (Aiming low in linguistics: Low-level generalizations in corpus-based research: National Chiao Tung University, 2008) finds valuable information at the level of the inflectional form, and Gries (forthcoming) argues that inflectional forms do not necessarily provide a better basis for analysis than lemmas. We agree with them that the appropriate level of granularity is determined by both the language and the linguistic phenomenon under analysis. (shrink)

Knowledge of eukaryotic life cycles and associated genome dynamics stems largely from research on animals, plants, and a small number of “model” (i.e., easily cultivable) lineages. This skewed sampling results in an underappreciation of the variability among the many microeukaryotic lineages, which represent the bulk of eukaryotic biodiversity. The range of complex nuclear transformations that exists within lineages of microbial eukaryotes challenges the textbook understanding of genome and nuclear cycles. Here, we look in‐depth at Foraminifera, an ancient (∼600 million‐year‐old) lineage (...) widely studied as proxies in paleoceanography and environmental biomonitoring. We demonstrate that Foraminifera challenge the “rules” of life cycles developed largely from studies of plants and animals. To this end, we synthesize data on foraminiferal life cycles, focusing on extensive endoreplication within individuals (i.e., single cells), the unusual nuclear process calledZerfall, and the separation of germline and somatic function into distinct nuclei (i.e., heterokaryosis). These processes highlight complexities within lineages and expand our understanding of the dynamics of eukaryotic genomes. (shrink)

Concentrating on the thought of Canada's major scientists, philosophers, and clerics - men such as William Dawson and Daniel Wilson, John Watson and W.D. LeSeur, G.M. Grant and Salem Bland - A Disciplined Intelligence begins by reconstructing the central strands of intellectual and moral orthodoxy prevalent in Anglo-Canadian colleges on the eve of the Darwinian revolution. These include Scottish common sense philosophy and the natural theology of William Paley. The destructive impact of evolutionary ideas on that orthodoxy and the (...) major exponents of the new forms of social evolution - Spencerian and Hegelian alike - are examined in detail. By the twentieth century the centre of Anglo-Canadian thought had been transformed by what had become a new, evolutionary orthodoxy. The legacy of this triumphant intellectual movement, British idealism, was immense. It helped to destroy Protestant denominationalism, provide the philosophical core of the social gospel movement, and constitute a major force behind the creation of the United Church of Canada. Throughout the nineteenth century and continuing into the twentieth, however, the moral imperative in Anglo-Canadian thought remained a constant presence. (shrink)

The effects of research ethics training on medical students' attitudes about clinical research are examined. A preliminary randomized controlled trial evaluated 2 didactic approaches to ethics training compared to a no-intervention control. The participant-oriented intervention emphasized subjective experiences of research participants. The criteria-oriented intervention emphasized specific ethical criteria for analyzing protocols. Compared to controls, those in the participant-oriented intervention group exhibited greater attunement to research participants' attitudes related to altruism, trust, quality of relationships with researchers, desire for information, hopes about (...) participation and possible therapeutic misconception, importance of consent forms, and deciding quickly about participation. The participant-oriented group also agreed more strongly that seriously ill people are capable of making their own research participation decisions. The criteria-oriented intervention did not affect learners' attitudes about clinical research, ethical duties of investigators, or research participants' decision making. An empathy-focused approach affected medical students' attunement to research volunteer perspectives, preferences, and attributes, but an analytically oriented approach had no influence. These findings underscore the need to further examine the differential effects of empathy-versus analytic-focused approaches to the teaching of ethics. (shrink)

Much is being made of local food. It is at once a social movement, a diet, and an economic strategy—a popular solution—to a global food system in great distress. Yet, despite its popularity or perhaps because of it, local food (especially in the US) is also something of a chimera if not a tool of the status quo. This paper reflects on and contrasts aspects of current local food rhetoric with Dalhberg’s notion of a regenerative food system. It identifies three (...) problematic emphases—the locavore emphasis, the Wal-Mart emphasis, and the Pollan emphasis—and argues that they are shifting local food (as a concept and a social movement) away from the deeper concerns of equity, citizenship, place-building, and sustainability. It is suggested that local food activists and advocates might consider the use of multiple methodologies and forms of expression to explore the integration and reintegration of local food into diverse and redundant place-based practice. A short case study of a low-income, urban neighborhood in Lansing, Michigan, illustrates the value of contextual analysis for more fully enabling the local food movement and a regenerative food system. (shrink)

This essay tells a story. It is a story of the author's experience with community supported agriculture (CSA). It is also a story that depicts the difficulties of academic activism and grass-roots engagement. As an academic and an activist, the author argues that it is important to admit and share experiences that are “less than perfect,” since they are the basis for a more complete knowledge and a more organic existence, individually, collectively, sensually, and intellectually.

BackgroundThe COVID-19 pandemic has had a significant impact on the health system worldwide. The organ and tissue donation and transplantation (OTDT) system is no exception and has had to face ethical challenges related to the pandemic, such as risks of infection and resource allocation. In this setting, many Canadian transplant programs halted their activities during the first wave of the pandemic.MethodTo inform future ethical guidelines related to the COVID-19 pandemic or other public health emergencies of international concern, we conducted a (...) literature review to summarize the ethical issues.ResultsThis literature review identified three categories of ethical challenges. The first one describes the general ethical issues and challenges reported by OTDT organizations and transplantation programs, such as risks of COVID-19 transmission and infection to transplant recipients and healthcare professionals during the transplant process, risk of patient waitlist mortality or further resource strain where transplant procedures have been delayed or halted, and resource allocation. The second category describes ethical challenges related to informed consent in the context of uncertainty and virtual consent. Finally, the third category describes ethical issues related to organ allocation, such as social considerations in selecting transplant candidates.ConclusionThis literature review highlights the salient ethical issues related to OTDT during the current COVID-19 pandemic. As medical and scientific knowledge about COVID-19 increases, the uncertainties related to this disease will decrease and the associated ethical issues will continue to evolve. (shrink)

Mobile devices with health apps, direct-to-consumer genetic testing, crowd-sourced information, and other data sources have enabled research by new classes of researchers. Independent researchers, citizen scientists, patient-directed researchers, self-experimenters, and others are not covered by federal research regulations because they are not recipients of federal financial assistance or conducting research in anticipation of a submission to the FDA for approval of a new drug or medical device. This article addresses the difficult policy challenge of promoting the welfare and interests of (...) research participants, as well as the public, in the absence of regulatory requirements and without discouraging independent, innovative scientific inquiry. The article recommends a series of measures, including education, consultation, transparency, self-governance, and regulation to strike the appropriate balance. (shrink)

The debate over the propriety of cognitive enhancement evokes both enthusiasm and worry. To gain further insight into the reasons that people may have for endorsing or eschewing pharmacological enhancement, we used empirical tools to explore public attitudes towards PE of twelve cognitive, affective, and social domains. Participants from Canada and the United States were recruited using Mechanical Turk and were randomly assigned to read one vignette that described an individual who uses a pill to enhance a single domain. After (...) reading the vignette, participants were asked how comfortable they were with the individual using the enhancement. People were significantly more comfortable when they read about enhancement of certain CAS domains than others. We found a modest negative correlation between comfort level and the degree to which the PE was perceived as changing core features of the person. We also found a modest correlation between comfort level and the degree to which the PE was perceived as improving success in life. Finally, using a sequential mixed method technique, we found that participants who felt uncomfortable about PE use overwhelmingly focused on a lack of need and, to a lesser degree, expressed concerns about safety; those who felt comfortable about PE use most frequently mentioned the safety of the pill and its ability to provide a positive outcome. The data provide novel insights into public enthusiasms and concerns over the use of PE. (shrink)

The progression of research and scholarly inquiry does not occur in isolation and is wholly dependent on accurate reporting of methods and results, and successful replication of prior work. Without mechanisms to correct the literature, much time and money is wasted on research based on a crumbling foundation. These guidelines serve to outline the respective responsibilities of researchers, institutions, agencies, and publishers or editors in maintaining the integrity of the research record. Delineating these complementary roles and proposing solutions for common (...) barriers provide a foundation for best practices. (shrink)

The 2006 outbreak of E. coli O157:H7, traced to bagged spinach from California, illustrates a number of contradictions. The solutions sought by many politicians and popular food analysts have been to create a centralized federal agency and a uniform set of production standards modeled after those of the animal industry. Such an approach would disproportionately harm smaller-scale producers, whose operations were not responsible for the epidemic, as well as reduce the agroecological diversity that is essential for maintaining healthy human beings (...) and ecosystems. Why should responses that only reinforce the problem be proffered? We use the framework of accumulation and legitimation to suggest corporate and government motives for concealing underlying problems and reinforcing powerful ideologies of individualism, scientism, and centralizing authority. Food safety (or the illusion of safety) is being positioned to secure capital rather than public welfare. We propose implementing the principle of subsidiarity as a more democratic and decentralized alternative. Because full implementation of this principle will be resisted by powerful interests, some promising intermediate steps include peer production or mass collaboration as currently applied to disease prevention and surveillance, as well as studying nascent movements resisting current food safety regulations. (shrink)

To examine whether anticipatory attention or expectancy is a cognitive process that is automatic or requires conscious control, we employed a paired-stimulus event-related potential paradigm during the transition to sleep. The slow negative ERP wave observed between two successive stimuli, the Contingent Negative Variation , reflects attention and expectancy to the second stimulus. Thirteen good sleepers were instructed to respond to the second stimulus in a pair during waking sessions. In a non-response paradigm modified for sleep, participants then fell asleep (...) while tones played. As expected, N1 decreased and P2 increased in amplitude systematically with the loss of consciousness at sleep onset; the CNV was increasingly more positive. Sleep onset latency was correlated with the amplitude of the CNV. The systematic attenuation of the CNV waveform at sleep onset and its absence in sleep indicates that anticipatory attention requires endogenous conscious control. (shrink)

Quantum mechanics (QM) is a favorite area of physics to feature in “science and religion” discussions. We argue that this is at least partly because the arcane results of QM can be deployed to make big theological claims by the linguistic sleight of hand of “register switching”—sliding imperceptibly from technical into everyday language using the same vocabulary. We clarify the discussion by deploying the formal mapping of QM into classical statistical mechanics (CSM) via the mathematical device of “Wick rotation.” This (...) equivalence between QM and CSM suggests caution in claiming distinctiveness for quantum theologizing. After outlining two areas in which quantum insights nevertheless resonate with longstanding themes in theological reflection (hiddenness and visualizability), we suggest that both QM and CSM point to a theology of science in which scientists participate in the divine gaze on creation as imago Dei. (shrink)

The research presented in this paper focuses on business ethical values inChina, a country in which the process of institutional transformation has left cultural values in a state of flux. A survey was conducted in China and the U.S. by using five business scenarios. Survey results show similarities between the Chinese and American decision choices for three out of five scenarios. However, the results reveal significant differences in rationales, even forsimilar decisions. The implications of similarities and differences between the U.S. (...) and Chinese samples are discussed. (shrink)

Illusions of personal authorship can arise when causation for an event is ambiguous, but people mentally represent an anticipated outcome and then observe a corresponding match in reality. When people do not maintain such high-level outcome representations and focus instead on low-level behavioral representations of concrete actions, illusions of personal authorship can be reduced. One condition that yields specific action plans and thereby moves focus from high-level outcomes to low-level actions is the generation of counterfactual thoughts. Hence, in the present (...) research we tested whether thinking counterfactually can reduce illusory authorship. In line with predictions, generating behavior-regulating counterfactuals reduced susceptibility to the illusion . Importantly, this only occurred when people expected to re-encounter the situation to which the counterfactuals applied . These findings extend existing research on the boundary conditions of illusory experiences of personal authorship and might hint at a relationship between the illusion and behavior regulation. (shrink)

This article formulates a new approach to combating corruption in Uganda. In pursuit of this research, the author highlights the chronicity of corruption in Uganda, which is uniformly political and bureaucratic. Bureaucratic corruption takes place in service delivery and rule enforcement. It has two sides: demand-induced and supply-induced. Political corruption occurs at high levels of politics. There are 'political untouchables' and businessmen who are above the law and above institutional control mechanisms. The established institutions of checks and balances in Uganda (...) have assiduously continued to have a limited bearing on corruption. Neither coherent anti-corruption norms nor severe formal sanctions are able to dishearten certain politicians and civil servants in Uganda from the deviant behaviour of structural corruption. Corruption is a spiritual departure from the law and standard of God. It is an action conceived in the human mind and carried out by the corrupt. Therefore, corruption deterrence not only lies in sound public financial management systems but depends to a large extent on having people with positive human character in all aspects of national life. This article thus provides the framework of corruption and discusses the manifestation of political and bureaucratic corruption in Uganda. It also exegetes the biblical stance regarding corruption. Finally, it proposes a panacea for combating political and bureaucratic corruption. (shrink)

The ambiguity regarding whether a given intervention is perceived as enhancement or as therapy might contribute to the angst that the public expresses with respect to endorsement of enhancement. We set out to develop empirical data that explored this. We used Amazon Mechanical Turk to recruit participants from Canada and the United States. Each individual was randomly assigned to read one vignette describing the use of a pill to enhance one of 12 cognitive, affective or social domains. The vignettes described (...) a situation in which an individual was using a pill to enhance the relevant domain under one of two possible enhancement conditions, one perceived as enhancing above the norm, what most people recognize as a clear case of enhancement, whereas the other perceived as enhancing towards the norm, with the individual using the enhancement having a modest, but subclinical deficit. Participants were asked how comfortable they were with the individual using the enhancement and about the impact the enhancement might have had in the individuals’ success in life. We found that irrespective of the domain to be enhanced, participants felt significantly more comfortable with ETN than with EAN, and they regarded the enhancement intervention as contributing to greater success in life with ETN rather than EAN. These data demonstrate that the therapy enhancement distinction is morally salient to the public, and that this distinction contributes to the angst that people feel when considering the propriety of CAS enhancement. (shrink)

This essay tells a story. It is a story of the author's experience with community supported agriculture (CSA). It is also a story that depicts the difficulties of academic activism and grass-roots engagement. As an academic and an activist, the author argues that it is important to admit and share experiences that are “less than perfect,” since they are the basis for a more complete knowledge and a more organic existence, individually, collectively, sensually, and intellectually.

Peer review is a widely accepted instrument for raising the quality of science. Peer review limits the enormous unstructured influx of information and the sheer amount of dubious data, which in its absence would plunge science into chaos. In particular, peer review offers the benefit of eliminating papers that suffer from poor craftsmanship or methodological shortcomings, especially in the experimental sciences. However, we believe that peer review is not always appropriate for the evaluation of controversial hypothetical science. We argue that (...) the process of peer review can be prone to bias towards ideas that affirm the prior convictions of reviewers and against innovation and radical new ideas. Innovative hypotheses are thus highly vulnerable to being “filtered out” or made to accord with conventional wisdom by the peer review process. Consequently, having introduced peer review, the Elsevier journal Medical Hypotheses may be unable to continue its tradition as a radical journal allowing discussion of improbable or unconventional ideas. Hence we conclude by asking the publisher to consider re-introducing the system of editorial review to Medical Hypotheses. (shrink)

We investigated how color preferences vary according to season and whether those changes could be explained by the ecological valence theory. To do so, we assessed the same participants’ preferences for the same colors during fall, winter, spring, and summer in the northeastern United States, where there are large seasonal changes in environmental colors. Seasonal differences were most pronounced between fall and the other three seasons. Participants liked fall-associated dark-warm colors—for example, dark-red, dark-orange, dark-yellow, and dark-chartreuse—more during fall than other (...) seasons. The EVT could explain these changes with a modified version of Palmer and Schloss’ weighted affective valence estimate procedure that added an activation term to the WAVE equation. The results indicate that color preferences change according to season, as color-associated objects become more/less activated in the observer. These seasonal changes in color preferences could not be characterized by overall shifts in weights along cone-contrast axes. (shrink)

Background: Expanded newborn screening generates incidental results, notably carrier results. Yet newborn screening programmes typically restrict parental choice regarding receipt of this non-health serving genetic information. Healthcare providers play a key role in educating families or caring for screened infants and have strong beliefs about the management of incidental results. Methods: To inform policy on disclosure of infant sickle cell disorder (SCD) carrier results, a mixed-methods study of healthcare providers was conducted in Ontario, Canada, to understand attitudes regarding result management (...) using a cross-sectional survey (N = 1615) and semistructured interviews (N = 42). Results: Agreement to reasons favouring disclosure of SCD carrier results was high (65.1%–92.7%) and to reasons opposing disclosure was low (4.1%–18.1%). Genetics professionals expressed less support for arguments favouring disclosure (35.3%–78.8%), and more agreement with arguments opposing disclosure (15.7%–51.9%). A slim majority of genetics professionals (51.9%) agreed that a reason to avoid disclosure was the importance of allowing the child to decide to receive results. Qualitatively, there was a perceived “duty” to disclose, that if the clinician possessed the information, the clinician could not withhold it. Discussion: While a majority of respondents perceived a duty to disclose the incidental results of newborn screening, the policy implications of these attitudes are not obvious. In particular, policy must balance descriptive ethics (ie, what providers believe) and normative ethics (ie, what duty-based principles oblige), address dissenting opinion and consider the relevance of moral principles grounded in clinical obligations for public health initiatives. (shrink)

Background To describe the preferences for disclosure of individual biomarker results among mothers participating in a longitudinal birth cohort. Methods We surveyed 343 mothers that participated in the Health Outcomes and Measures of the Environment Study about their biomarker disclosure preferences. Participants were told that the study was measuring pesticide metabolites in their biological specimens, and that the health effects of these low levels of exposure are unknown. Participants were asked whether they wanted to receive their results and their child's (...) results. In addition, they were asked about their preferred method (letter vs in person) and format (more complex vs less complex) for disclosure of results. Results Almost all of the study participants wanted to receive their individual results (340/343) as well as their child's results (342/343). However, preferences for receiving results differed by education level. Mothers with less than a college degree preferred in-person disclosure of results more often than mothers with some college education or a college degree (34.3% vs 17.4% vs 7.9%, p<0.001). Similarly, mothers with less than a college education preferred a less complex disclosure format than mothers with some college education or a college degree (59.7% vs 79.1% vs 86.3%, p<0.0001). Conclusion While almost all study participants preferred to receive results of their individual biomarker tests, level of education was a key factor in predicting preferences for disclosure of biomarker results. To ensure effective communication of this information, disclosure of biomarker results should be tailored to the education level of the study participants. (shrink)

This is the first textbook of surgical ethics. It is a practical, clinically comprehenive, well-organized guide to ethical issues in surgical practice, research, and education written by leading figures in surgery and bioethics. The authors cover the surgeon-patient relationship, the full range of surgical patients, surgical education and research, and surgery and managed care. Their chapters are not abstract discussions of ethical principles; rather, they connect directly with the everyday concerns of practicing surgeons.

We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases compared with 2 of 8,540 controls and replicated in a second series of 22 of 9,254 cases compared with 6 of 6,299 controls. Most deletions were inherited, with carrier parents likely to manifest neuropsychiatric phenotypes compared to non-carrier parents. Probands were more likely to carry an additional large copy-number variant when compared to matched controls. The clinical (...) features of individuals with two mutations were distinct from and/or more severe than those of individuals carrying only the co-occurring mutation. Our data support a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications. Analysis of other microdeletions with variable expressivity indicates that this two-hit model might be more generally applicable to neuropsychiatric disease. © 2010 Nature America, Inc. All rights reserved. (shrink)