Detection of Alzheimer’s disease in an early stage is receiving increasing attention for a number of reasons, such as the failure of drug trials in more advanced disease stages, the demographic evolution, the financial impact of AD, and the approval of amyloid tracers for clinical use. Five focus group interviews with stakeholders were conducted.. The verbatim transcripts were analysed via the Nvivo 11 software. Most stakeholder groups wanted to know their own amyloid PET scan result. However, differences occurred between (...) FGs: two groups wanted to know, whilst in the three other groups FG members opted not to know or were still in doubt about their decision. Stakeholders provided insight into their reasons for wanting to know their amyloid PET scan result, for not wanting to know their result, or why they were in doubt about their decision. Several advantages and disadvantages were mentioned as part of knowing their amyloid PET scan result. Certain considerations were clustered in a grey zone, in between advantage and disadvantage, such as the emotional consequences. Clinicians, researchers, and policymakers ought to be aware of the diversity of reasons for wanting to know their result and how possible benefits and risks can be viewed differently. The current findings are of importance for future early diagnosis and disclosure of results in the research setting. (shrink)

The possibility of early diagnosis and intervention is radically changed by the advent of genetic testing. The recent report of the Nuffield Council on Bioethics is timely and helpful. I have suggested, that not only the severity of the disability indicated by genetic information, and the accuracy of the data, ought to govern the approach to the implementation of screening for genetic disorders. In addition, assessment of the value of the information to those involved should be considered. The (...) efficacy of the available therapeutic measures, combined with the prognostic data are important indices of the value of the information. These measures fall into three categories and thus indicate that three different courses of intervention may be appropriate. Three approaches to diagnosis and intervention are then outlined, drawing on the experience of various clinical initiatives. (shrink)

In Alzheimer's disease (AD), pathological processes start in the brain long before clinical dementia. Biomarkers reflecting brain alterations may therefore indicate disease at an early stage, enabling early diagnosis. This raises several ethical questions and the potential benefits of early diagnosis must be weighted against possible disadvantages. Currently, there are few strong arguments favouring early diagnosis, due to the lack of disease modifying therapy. Also, available diagnostic methods risk erroneous classifications, with potentially grave (...) consequences. However, a possible benefit of early diagnosis even without disease modifying therapy is that it may enable early decision making when patients still have full decision competence, avoiding problems of hypothetical consents. It may also help identifying patients with cognitive dysfunction secondary to other diseases that may be responsive to treatment already today. (shrink)

Le développement d’un droit de regard des institutions collectives sur les corps gestants et surtout d’une injonction à « se savoir et se faire savoir » enceinte remonte au xvie siècle au moins. Or la reconnaissance d’un état de grossesse et sa datation ont toujours constitué une double incertitude, face à laquelle divers procédés d’observation corporelle ont été mis en œuvre au cours des siècles. L’article aborde cette question dans le temps long (de l’époque moderne à la fin du xxe (...) siècle) en comparant les modalités et les enjeux pratiques de la détection des grossesses dans un certain nombre de situations d’ordre médico-légal : affaires d’infanticide (datant surtout du xixe siècle), lutte contre l’avortement (fin xixe-milieu xxe siècle), dossiers administratifs relatifs au non-versement d’allocations prénatales (1945-1970). Cette histoire de la socialisation de la gestation permet d’identifier les jeux d’expertise, de médiations et de négociations auprès de femmes enceintes se disant non informées de leur propre état et propose une histoire sociale du doute, de la corporéité et de la conscience de soi. (shrink)

Inflammatory bowel disease is chronic and incurable. Imperious diarrhea, rectal bleeding, fatigue, and weight loss, the main manifestations, cause a decrease in the quality of the patient’s personal and professional life. The objectives of this study were to identify a possible relationship between early maladaptive schemas and disease activity status using logistic regression, to identify the prevalence of early maladaptive schemes in patients and to propose a psychotherapeutic intervention plan. The following were found in a sample of 46 (...) patients aged 16–76 years. An increase in the domain overvigilance and inhibition score had a significant effect, with an increase of 1.137 CI95% [1.031, 1.254] of the risk of the disease being diagnosed as active. High and very high scores were observed for the emotional deprivation scheme and dependence/incompetence, vulnerability to harm and illness and subjugation schemas. The results show that the proposed model could predict and reconfirm the diagnosis; patients have specific psychotherapeutic needs. The therapeutic goal would be to offer care, empathy and protection, to strengthen self-confidence, to make patients realize that they have the ability to cope, to provide permission, encourage the patient to experiment, and guide the patient to express their anger healthily. The therapy scheme’s intervention could lead to increased long-term disease management capacity and, consequently, reduce costs directly and indirectly caused by this condition. (shrink)

Diagnosis of dementia in primary care is both difficult and important. The recommendations by several authors to improve the diagnosis of dementia by general practitioners are important, but insufficient. It is argued that perhaps the disease concept in itself is a cause of confusion for clinicians. Primary care physicians need an adapted procedure, gradually leading to the final diagnosis of dementia. It has to be a stepwise labelling strategy, using global descriptions and non-disease specific labels in the (...) beginning, ending up with well-defined disease criteria. In this process, there is circularity: previous diagnoses have to be kept in mind because symptoms and signs may gradually change during the progression of the disease, leading to reconsideration of previous deleted options. To frame this properly, the primary care physician needs to adopt a broad frail elderly geriatric concept. Implementation of this concept not only helps the diagnostic process, but also stimulates the care for dementing patients and their caregivers. Relevant arguments for early diagnostic involvement of primary care physicians can be put forward on condition that a new concept, adapted procedures and adapted instruments are used. (shrink)

Thousands of candidate cancer biomarkers have been proposed, but so far, few are used in cancer screening. Failure to implement these biomarkers is attributed to technical and design flaws in the discovery and validation phases, but a major obstacle stems from cancer biology itself. Oncogenomics has revealed broad genetic heterogeneity among tumors of the same histology and same tissue (or organ) from different patients, while tumors of different tissue origins also share common genetic mutations. Moreover, there is wide intratumor genetic (...) heterogeneity among cells within any single neoplasm. These findings seriously limit the prospects of finding a single biomarker with high specificity for early cancer detection. Current research focuses on developing biomarker panels, with data assessment by machine‐learning algorithms. Whether such approaches will overcome the inherent limitations posed by tumor biology and lead to tests with true clinical value remains to be seen. (shrink)

Clinical decisionmaking includes reasoning from prescientific or scientific theories, reasoning from uncontrolled or controlled experience, and reasoning based on empathic understanding and moral beliefe. The development of contemporary clinical thinking is discussed, and it is found that successive generations of medical practitioners have had different views of the rationality and relative importance of these modes of reasoning: that which is considered rational by one generation of doctors is sometimes denounced by the next. The author's book, Rational Diagnosis and Treatment (...) , which is an example of clinical thinking in the 1960s and early 70s, is used to illustrate one particular view of clinical decisionmaking. Keywords: rational, clinical decisionmaking, biological theory, controlled clinical studies, empathic understanding, ethical reasoning CiteULike Connotea Del.icio.us What's this? (shrink)

IntroductionCerebral visual impairment is an important cause of visual impairment in western countries. Perinatal hypoxic-ischemic damage is the most frequent cause of CVI but CVI can also be the result of a genetic disorder. The majority of children with CVI have cerebral palsy and/or developmental delay. Early diagnosis is crucial; however, there is a need for consensus on evidence based diagnostic tools and referral criteria. The aim of this study is to develop guidelines for diagnosis and referral (...) in CVI according to the grade method.Patients and MethodsWe developed the guidelines according to the GRADE method 5 searches on CVI were performed in the databases Medline, Embase, and Psychinfo, each with a distinct topic.ResultsBased on evidence articles were selected on five topics: 1. Medical history and CVI-questionnaires 23. 2. Ophthalmological and orthoptic assessment 37. 3. Neuropsychological assessment 5. 4. Neuroradiological evaluation and magnetic resonance imaging 9. 5. Genetic assessment 5.ConclusionIn medical history taking, prematurity low birth weight and APGAR Scores are important. Different questionnaires are advised for children under the age of 3 years, older children and for specific risk groups. In ophthalmological examination, eye movements, specially saccades, accommodation, crowding, contrast sensitivity and visual fields should be evaluated. OCT can show objective signs of trans-synaptic degeneration and abnormalities in fixation and saccades can be measured with eye tracking. Screening of visual perceptive functioning is recommended and can be directive for further assessment. MRI findings in CVI in Cerebral Palsy can be structured in five groups: Brain maldevelopment, white and gray matter lesions, postnatal lesions and a normal MRI. In children with CVI and periventricular leukomalacia, brain lesion severity correlates with visual function impairment. A differentiation can be made between cortical and subcortical damage and related visual function impairment. Additional assessments can be necessary to complete the diagnosis of CVI and/or to reveal the etiology. (shrink)

Successful preimplantation genetic diagnosis (PGD) to avoid creating a child affected by a genetically-based disorder was reported in 1989. Since then PGD has been used to biopsy and analyze embryos created through in viuo fertilization (IVF) to avoid transferring to the mother’s uterus an embryo affected by a mutation or chromosomal abnormality associated with serious illness. PGD to avoid serious and early-onset illness in the child-to-be is widely accepted. PGD prevents gestation of an affected embryo and reduces the (...) chance that the parents will be faced with a difficult decision of whether to terminate the pregnancy. More controversial have been PGD to select the sex of the child-to-be for “family balancing” (rather than to avoid a sex-linked disorder), PGD for mere susceptibility to disease and for late-onset disorders such as Alzheimer diseas, and most controversially, PGD to create a donor child who is Human Leukocyte Antigen (HLA-matched with a preexisting sibling in need of stem cell transplant. (shrink)

Most of us want to have children. We want them to be healthy and have a good start in life. One way to achieve this goal is to use preimplantation genetic diagnosis . PGD enables people engaged in the process of in vitro fertilisation to acquire information about the genetic constitution of an early embryo. On the basis of this information, a decision can be made to transfer embryos without genetic defects to the uterus and terminate those with (...) genetic defects.1However, is it morally acceptable to use PGD to reduce the probability of children with severe genetic diseases being born? Is the current routine use of PGD in public healthcare services to select against severe genetic diseases like anencephaly, spina bifida, cystic fibrosis and Down’s syndrome morally acceptable?These are complex questions involving a range of difficult ethical issues—for instance, critical discussions about the morality of embryo research and embryo termination.2 They also involve awkward conceptual issues concerning such matters as the meaning of words such as “disability”3 and “severe” in “severe genetic diseases”,4 which will not be discussed here.In this paper I examine an argument which aims to show that efforts to prevent the birth of severely disabled children using PGD are morally unacceptable. Essentially, this argument appeals to our concern for disabled people and the belief that PGD, through a slippery slope process, will have bad consequences for them. I conclude that the argument is problematic for a number of reasons. But before I examine the argument itself, it will be helpful to separate two types of slippery slope argument since these involve different kinds of reasoning.TWO TYPES OF ARGUMENTMany of the arguments against PGD point to the bad consequences it can be expected to have for disabled people. Central to all these …. (shrink)

Human beings rely on metaphor as a primary cognitive device for interpreting the world around them. Metaphors figure especially strongly in discourse around health, illness, and medicine. It is not just that patients use metaphors to describe their personal experience of being unwell, or that medical professionals employ metaphor to convey a diagnosis, describe a treatment, or explain the function of an organ to their patients. Metaphor, it is argued, lies at the heart of the process of diagnosis. (...) Moreover, diagnosticians employ competing metaphors in the early stages of diagnosis to speculate on alternative ways of viewing a puzzling set of symptoms. Diagnosis is often defined as a process of ordering and classifying, while metaphor is a device for playing with classifications. The medical systems of different cultures depend on different sets of fundamental metaphors. Modern Western biomedicine is organized around a series of basic metaphors: the body as machine, the body as the site of battle, and the body as a communication system. Traditional Chinese medicine, on the other hand, uses images of flow and blockage, balance and imbalance, and works by analogy with five elements: wood, fire, earth, metal, and water. Psychologists are sometimes able to detect from a patient’s own use of metaphor, or inability to use or recognize metaphor, clues to a diagnosis of psychosis or autism. With conditions such as anorexia nervosa, therapists may actually work to modify the dysfunctional metaphors by which patients depict themselves, with the purpose of establishing positive metaphors for envisaging recovery. (shrink)

Precise and timely diagnosis of Parkinson’s disease is important to control its progression among subjects. Currently, a neuroimaging technique called dopaminergic imaging that uses single photon emission computed tomography (SPECT) with 123I-Ioflupane is popular among clinicians for detecting Parkinson’s disease in early stages. Unlike other studies, which consider only low-level features like gray matter, white matter, or cerebrospinal fluid, this study explores the non-linear relation between different biomarkers (SPECT + biological) using deep learning and multivariate logistic regression. Striatal (...) binding ratios are obtained using 123I-Ioflupane SPECT scans from four brain regions which are further integrated with five biological biomarkers to increase the diagnostic accuracy. Experimental results indicate that this investigated approach can differentiate subjects with 100% accuracy. The obtained results outperform the ones reported in the literature. Furthermore, logistic regression model has been developed for estimating the Parkinson’s disease onset probability. Such models may aid clinicians in diagnosing this disease. (shrink)

Successful preimplantation genetic diagnosis to avoid creating a child affected by a genetically-based disorder was reported in 1989. Since then PGD has been used to biopsy and analyze embryos created through in viuo fertilization to avoid transferring to the mother’s uterus an embryo affected by a mutation or chromosomal abnormality associated with serious illness. PGD to avoid serious and early-onset illness in the child-to-be is widely accepted. PGD prevents gestation of an affected embryo and reduces the chance that (...) the parents will be faced with a difficult decision of whether to terminate the pregnancy. More controversial have been PGD to select the sex of the child-to-be for “family balancing”, PGD for mere susceptibility to disease and for late-onset disorders such as Alzheimer diseas, and most controversially, PGD to create a donor child who is Human Leukocyte Antigen (HLA-matched with a preexisting sibling in need of stem cell transplant. (shrink)

The aim of the study was to develop a new comprehensive reading assessment battery for multi-ethnic and multilingual learners in Malaysia. Using this assessment battery, we examined the reliability, validity, and dimensionality of the factors associated with reading difficulties/disabilities in the Malay language, a highly transparent alphabetic orthography. In order to further evaluate the reading assessment battery, we compared results from the assessment battery with those obtained from the Malaysian national screening instrument. In the study, 866 Grade 1 children from (...) multi-ethnic and multilingual backgrounds from 11 government primary schools participated. The reading assessment battery comprised 13 assessments, namely, reading comprehension, spelling, listening comprehension, letter name knowledge, letter name fluency, rapid automatized naming, word reading accuracy, word reading efficiency, oral reading fluency, expressive vocabulary, receptive vocabulary, elision, and phonological memory. High reliability and validity were found for the assessments. An exploratory factor analysis yielded three main constructs: phonological-decoding, sublexical-fluency, and vocabulary-memory. Phonological-decoding was found to be the most reliable construct that distinguished between at-risk and non-at-risk children. Identifying these underlying factors will be useful for detecting children at-risk for developing reading difficulties in the Malay language. In addition, these results highlight the importance of including a range of reading and reading-related measures for the early diagnosis of reading difficulties in this highly transparent orthography. (shrink)

Successful preimplantation genetic diagnosis to avoid creating a child affected by a genetically-based disorder was reported in 1989. Since then PGD has been used to biopsy and analyze embryos created through in viuo fertilization to avoid transferring to the mother’s uterus an embryo affected by a mutation or chromosomal abnormality associated with serious illness. PGD to avoid serious and early-onset illness in the child-to-be is widely accepted. PGD prevents gestation of an affected embryo and reduces the chance that (...) the parents will be faced with a difficult decision of whether to terminate the pregnancy. More controversial have been PGD to select the sex of the child-to-be for “family balancing”, PGD for mere susceptibility to disease and for late-onset disorders such as Alzheimer diseas, and most controversially, PGD to create a donor child who is Human Leukocyte Antigen (HLA-matched with a preexisting sibling in need of stem cell transplant. (shrink)

This paper presents a case in whom a differential diagnosis of akinetic mutism with a disorder of consciousness was made using diffusion tensor tractography. A 69-year-old female patient was diagnosed with subarachnoid hemorrhage, intraventricular hemorrhage, and intracerebral hemorrhage produced by the subarachnoid hemorrhage. She exhibited impaired consciousness with a Coma Recovery Scale-Revised score of 13 until 1 month after onset. Her impaired consciousness recovered slowly to a normal state according to the Coma Recovery Scale-Revised at 7 weeks after onset. (...) On the other hand, she exhibited the typical clinical features of akinetic mutism. On the DTT performed at 1-month, the upper, and lower dorsal ascending reticular activating systems, which are related to a disorder of consciousness, showed an almost normal state. In contrast, the prefronto-caudate and prefronto-thalamic tracts, which are related to akinetic mutism, showed severe injuries. These DTT results suggested that the patient's main clinical features were not a disorder of consciousness but akinetic mutism. Therefore, DTT for the ascending reticular activating system, and the prefronto-caudate and prefronto-thalamic tracts could provide additional evidence for a differential diagnosis of DOC and AM at the early stages of stroke. (shrink)

Progress in recombinant DNA technology and in mapping of the human genome makes it possible to diagnose genetic defects as early as 8–10 weeks after conception for an increasing number of genetic diseases. Further developments will bring wider applicability and increased sensitivity, making widespread application of this type of diagnosis possible. Logistical and ethical problems will however arise in the course of this development.

In the present article, we aimed at describing the diagnostic process in Psychiatry through a phenomenological perspective. We have identified 4 core concepts which may represent the joints of a phenomenologically oriented diagnosis. The "tightrope walking" attitude refers to the psychiatrist's ability to swing between 2 different and sometimes contrasting tendencies (e.g., engagement and disengagement). The "holistic experience" includes all those intuitive, nonverbal, and pre-thematic elements that emerge in the early stages of the clinical encounter as an emanation (...) of the atmospheric quality of the intersubjective space. The "co-construction of symptoms" regards the hermeneutic process behind psychiatric symptoms, involving both the patient as a self-interpreting agent and the clinician as a translator of his/her experience. Finally, by the "evolving typification" we mean that the closer the relationship becomes with the patient, the more specific and nuanced becomes the typification behind psychiatric diagnosis. Each of these concepts will be accompanied by an extract from a clinical case deriving from one of the authors' most recent clinical experiences. (shrink)

In psychiatry some disorders of cognition are distinguished from instances of normal cognitive functioning and from other disorders in virtue of their surface features rather than in virtue of the underlying mechanisms responsible for their occurrence. Aetiological considerations often cannot play a significant classificatory and diagnostic role, because there is no sufficient knowledge or consensus about the causal history of many psychiatric disorders. Moreover, it is not always possible to uniquely identify a pathological behaviour as the symptom of a certain (...) disorder, as disorders that are likely to differ both in their causal histories and in their overall manifestations may give rise to very similar patterns of behaviour. -/- Consider delusions as an example. It wouldn’t be correct to define delusions as those beliefs people form as a result of a neurobiological deficit and a hypothesis-evaluation deficit (as some versions of the two-factor theory of delusions suggest), because for some delusions no neurobiological deficit may be found, and reasoning biases and motivational factors may be contributors to the formation of the delusion (e.g. McKay et al., 2005). Moreover, it would be a mistake to define delusions as symptoms of schizophrenia alone, because they occur also in other disorders, including dementia, amnesia, and delusional disorders. Thus, aetiological considerations may appear in the description and analysis of delusions, but do not feature prominently in their definition. -/- In this paper I argue that the surface features used as criteria for the classification and diagnosis of disorders of cognition are often epistemic in character. I shall offer two examples: confabulations and delusions are defined as beliefs or narratives that fail to meet standards of accuracy and justification. Although classifications and diagnoses based on features of people’s observable behaviour are necessary at these early stages of neuropsychiatric research, given the variety of conditions in which certain phenomena appear, I shall attempt to show that current epistemic accounts of confabulations and delusions have limitations. Epistemic criteria can guide both research and clinical practice, but fail to provide sufficient conditions for the identification of delusions and confabulations, and fail to demarcate pathological from non-pathological narratives or beliefs. -/- Another limitation of current epistemic accounts – which I shall not address here – is the excessive focus on epistemic faults of confabulations and delusions at the expense of their epistemically neutral or advantageous features (see Bortolotti and Cox, 2009). This may lead to a misconception of delusions and confabulations, and to an oversimplification in the assessment of the needs of people who require clinical treatment for their psychotic symptoms. (shrink)

There is a profound paradox in modern medical knowledge production: The more we know, the more we know that we (still) do not know. Nowhere is this more visible than in diagnostics and early detection of disease. As we identify ever more markers, predictors, precursors, and risk factors of disease ever earlier, we realize that we need knowledge about whether they develop into something experienced by the person and threatening to the person’s health. This study investigates how advancements in (...) science and technology alter one type of uncertainty, i.e., temporal uncertainty of disease diagnosis. As diagnosis is related to anamnesis and prognosis it identifies how uncertainties in all these fields are interconnected. In particular, the study finds that uncertainty in disease diagnosis has become more subject to prognostic uncertainty because diagnosis is more connected to technologically detected indicators and less closely connected to manifest and experienced disease. These temporal uncertainties pose basic epistemological and ethical challenges as they can result in overdiagnosis, overtreatment, unnecessary anxiety and fear, useless and even harmful diagnostic odysseys, as well as vast opportunity costs. The point is not to stop our quest for knowledge about disease but to encourage real diagnostic improvements that help more people in ever better manner as early as possible. To do so, we need to pay careful attention to specific types of temporal uncertainty in modern diagnostics. (shrink)

IntroductionYounger age at diagnosis is a risk factor for poor health-related quality of life in long-term breast cancer survivors. However, few studies have specifically addressed HRQOL in young adults with breast cancer, nor have early changes in HRQOL been fully characterized.MethodsEligible female patients with breast cancer were identified through our local cancer center. To establish HRQOL, patients completed the Functional Assessment of Cancer Therapy-Breast around diagnosis and 12 months later. Sociodemographic factors, genetic susceptibility to cancer, tumor- and (...) treatment-related factors, and comorbidities were abstracted from medical records and the local oncology registry. Mixed-effects models were used to identify changes in FACT-B scores during the first year of treatment and to determine whether any demographic/treatment-related factors modulated changes in scores.ResultsHealth-related quality of life in young patients with breast cancer was within normal limits at baseline, with a FACT-B overall well-being score of 108.5. Participants reported slight improvements over a 12-month period: FACT-B overall well-being scores increased 6.6 points, functional well-being improved 3.0 points, emotional well-being improved 1.9 points, and physical well-being improved 1.5 points, on average. Participants with anxiety/depression at baseline reported greater improvements in FACT-B overall well-being and functional well-being than participants who did not have anxiety/depression at baseline. Marital status, reconstructive surgery, and baseline clinical staging were also significantly associated with changes in aspects of HRQOL, although their impact on change was relatively minimal.ConclusionYoung women with breast cancer do not report HRQOL concerns during the first year of treatment. Improvements in HRQOL during the first year of treatment may be attributable to a sense of relief that the cancer is being treated, which, in the short run, may outweigh the negative late effects of treatment. (shrink)

In my previous paper I argued that if in vitro fertilization (IVF) is legal and practiced there is no moral ground to object to legalization of preimplantation genetic diagnosis (PGD). My opponent raises an objection that my paper “fails to address the ethical argumentation of one key opponent of IVF – the Catholic Church”. In this reply I show that her/his thesis that embryos created during IVF are in ‘ethical limbo’ and “fall outside the moral universe of Christian ethics” (...) does not undermine my argumentation and masks the serious problem Catholics have with the moral status of early embryos. (shrink)

In the past few years considerable attention has been given to a relatively new method of prenatal diagnosis known as chorionic villus sampling (CVS). Because CVS can be performed in the first trimester it is hailed by many as a significant advance over amniocentesis. What has not been as publicized, however, are the disadvantages of CVS and earlier prenatal diagnosis. The emotional costs of CVS in terms of the greater number of both spontaneous and selective abortions following CVS, (...) the use of CVS for sex selection and, because of the greater social acceptability of first trimester abortion, the possibility of increased pressure on women to undergo prenatal diagnosis by health insurance companies, medical professionals and government agencies, all need to be weighed against the advantages of early prenatal diagnosis. (shrink)

Through personal testimony, the author details the experience of fathering a baby with a poor prenatal diagnosis. The author invites the reader to follow his journey, from learning his wife is pregnant, through their experiences as a family with their unborn daughter’s poor prenatal diagnosis, welcoming their baby girl at her birth, and ultimately finding peace in her early passing. Perinatal peer support is discussed and encouraged, drawing attention to the needs and concerns of the babies, women, (...) and families who may not know to seek help in a similar situation. Great honor is given to the beauty and sanctity of life from the perspective of a father with a sick unborn child. National Catholic Bioethics Quarterly 14.1 : 31–37. (shrink)

IntroductionMother–child interactions during the first years of life have a significant impact on the emotional and cognitive development of the child. In this work, we study how a prenatal diagnosis of malformation may affect maternal representations and the quality of these early interactions. To this end, we conducted a longitudinal observational study of mother–child interactions from the gestational stage until the baby completed 12 months of age.Participants and MethodsWe recruited 250 pregnant women from a local university hospital. Among (...) them, 50 mother–infant dyads participated in all stages of the study. The study group consisted of 25 pregnant women with fetuses with some structural alteration and the control group consisted of 25 pregnant women with fetuses without structural anomalies. We collected obstetric and socio demographic data and pregnancy outcomes. Anxiety and depressive state data were collected using the COVI and Raskin Scales. We video-recorded the mother–infant interactions during several stages, including when the child was a newborn and when the child was 2, 4, 6, 9, and 12 months of age. The quality of the mother infant interactions were measured using the Coding Interactive Behavior. The interactive moments recorded on video was composed of three different activities, each one lasting appoximately 3 min, which included Free Interaction, where the mother was instructed to interact “as usual” without any toy, Toy Interaction, where the mother and baby played with a puppv, and Song Interaction, where the mother and baby interacted while the mother sang the “Happy Birthday” song.ResultsIn the gestational phase, there was a significant difference between the groups with respect to anxiety and depression scores, which were significantly higher for the study group. In the postnatal phase, we found significant differences between the groups with respect to CIB scales after the child completed 6 months of age: the study group presented significantly higher values of Maternal Sensitivity at 6 months of age, of Baby Involvement at 9 and 12 months of age, and of Dyadic Reciprocity at 6, 9, and 12 months of age, while the control group presented significantly higher values of Withdrawal of the Baby at 6 months of age, and of Dyadic Negative States at 6 and 9 months of age.ConclusionThe support offered by the study favored the mother–infant bond and had a positive effect on the quality of interaction during the first year of life, despite the presence of prenatal diagnosis. (shrink)

Difficulties with periodization are often symptoms of internal diseases affecting the history of philosophy. Renaissance scholars and historians of early modern philosophy represent two scholarly communities that do not communicate with each other, as if an abrupt change of scenery had taken place from the sixteenth to the seventeenth century, from the age of Campanella to the age of Descartes. The assumption of an arbitrary division between these two periods continues to have unfortunate effects on the study of the (...) history of philosophy. This chapter provides a diagnosis of this problem by looking at the way in which periodization crystallized in the history of philosophy. It then lays a foundation for attempting a new approach to this issue, which consists in mapping direct connections and conceptual links of seventeenth-century philosophers with the philosophies of the Renaissance. We intend to shift the weight from the problem of assessing the ‘modernity’ of Renaissance philosophers to the creation of a space of interaction between Renaissance and early modern thinkers in the spirit of ‘conversation’, with special attention to tracing sources, direct allusions, confutations and continuities. (shrink)

The access to human pre‐implantation embryos that is afforded by procedures now developed for the treatment of infertility presents the possibility of very early prenatal diagnosis, before implantation in the uterus, of certain genetic diseases. Only the normal embryos would be replaced in the mother for initiation of implantation and pregnancy. Early experiments on a mouse model for Lesch‐Nyhan syndrome (HPRT‐deficiency) show that pre‐implantation diagnosis of genetic disease is feasible.

Alongside the renowned male pioneers of medical cytogenetics, many women participated in investigations at the laboratory bench and the bedside, both in Europe and the Americas. These women were committed to this new biological and clinical practice—cytogenetics, the origins of contemporary genetic diagnosis—and contributed to the creation of new biological concepts and settings centered on the study of chromosome imaging. This paper will review the contributions made by a group of woman scientists from a wide geographical distribution, situating their (...) names and research agendas within the history of a field dating back to early plant and insect cytogenetics. Rather than an exhaustive compendium of women geneticists, this essay presents a kind of historical reconstruction that can be achieved by placing women at center stage in their geographies and networks of circulating cytogenetic knowledge and practices thereby relating a history of genetic images though the work carried out by women, retrieving their agency and constructing an inclusive history of an influential contemporary biomedical practice as it gained increasing influence in the laboratory and the clinic. (shrink)

Background: Today, many healthcare or dementia organizations, clinicians, and companies emphasize the importance of detection of Alzheimer’s disease in an early phase. This idea has gained considerable momentum due to the development of biomarkers, the recent FDA and EMA approval of three amyloid tracers, and the failure of a number of recent therapeutic trials conducted in the early dementia phase. On the one hand, an early etiological diagnosis can lead to early and more efficacious intervention. (...) On the other hand, it is questioned how early an etiological diagnosis is beneficial to the patient. Here we consider ethical issues related to the process of biomarker testing and the impact on the diagnostic disclosure to patients with mild cognitive impairment due to prodromal Alzheimer’s disease. Methods: A systematic review of the theoretical bioethics literature was performed by using electronic databases. The review was limited to articles published in English between 2003 and 2016. Results: A total of twenty articles were included in our effort to make an analysis of the ethical challenges. One of the biggest challenges was the uncertainty and the predictive value of the biomarker-based diagnosis where patients can be amyloid positive without full certainty whether or when they will develop symptomatic decline due to Alzheimer’s disease. Another challenge was the tension between the right to know versus the wish not to know, the limited efficacy of currently available treatment options, and the opportunities and consequences after receiving such an early diagnosis. Conclusion: Based on the results and the additional comments in the discussion, several unanswered questions emerged. Therefore, careful consideration of all these ethical issues is required before the disclosure of a biomarker-based diagnosis to the patient with mild cognitive impairment due to Alzheimer’s disease. (shrink)

It may soon be possible to diagnose neurodegenerative disorders, such as early onset Alzheimer's disease, with a high degree of accuracy well before these conditions become symptomatic. In a carefully argued and thought-provoking piece, Dena Davis maintains that preemptive suicide may be a rational option for those confronted with a preclinical diagnosis of impending dementia, and consequently that withholding the results of dementia research until effective treatments become available constitutes an unjustified infringement on patient autonomy. If suicide is (...) indeed a rational course of action for some people diagnosed with dementia, then contrary to received wisdom, biomarker information indicating a high risk of dementia may be ‘actionable’ even if there is no known treatment for the condition. Preemptive suicide, Davis argues, may be motivated and justified by a mixture of other-regarding and self-regarding considerations. These include, inter alia, the wish to avoid imposing significant financial or psychological hardships on one's family, the unwillingness to live without the capacities for meaningful independence or agency, and the desire to write a final chapter that is consistent with one's stable values and that does not distort or eclipse the overarching narrative of one's life. Dementia raises an ethical dilemma that does not arise in connection with other diseases with respect to which many believe suicide is a rational course of action. This dilemma arises from the fact that a person with impending dementia cannot wait until the disease takes hold to issue and carry out a decision to end his or her life, since dementia destroys the capacities that underpin rational decision-making. Because jurisdictions permitting suicide require, quite reasonably, that a …. (shrink)

In coal mining industry, the running state of mine ventilators plays an extremely significant role for the safe and reliable operation of various industrial productions. To guarantee the better reliability, safety, and economy of mine ventilators, in view of early detection and effective fault diagnosis of mechanical faults which could prevent unscheduled downtime and minimize maintenance fees, it is imperative to construct some viable mathematical models for mine ventilator fault diagnosis. In this article, we plan to establish (...) a data-based mine ventilator fault diagnosis method to handle situations where engineers are absent or they are incapable of coming to a conclusion from multisource data. In the process of building the mine ventilator fault diagnosis model, considering that probabilistic rough sets could reduce the errors triggered by incompleteness, inconsistency, and inaccuracy without needing any additional assumptions and Pythagorean fuzzy multigranulation rough sets over the two universes’ model could effectively handle data representation, fusion, and analysis issues, we generalize the existing PF MGRSs over the two universes’ model to the PRS setting, as well as to further establish a novel model named Pythagorean fuzzy multigranulation probabilistic rough sets over two universes. In the granular computing paradigm, three types of PF MG-PRSs over two universes based on the risk attitude of engineers are proposed at first. Afterwards, several basic propositions of the newly proposed model are explored. Moreover, a PF multigranulation probabilistic model for mine ventilator fault diagnosis based on PF MG-PRSs over two universes is investigated. At last, a real-world case study of dealing with a mine ventilator fault diagnosis problem is given to illustrate the practicality of the presented model, and a validity test, a sensitivity analysis, and a comparison analysis are further explored to demonstrate the effectiveness of the presented model. (shrink)

This commentary contests Wynn's diagnosis of the cognitive implications of the earliest stone tools and Acheulian tools. I argue that the earliest stone tools imply greater cognitive abilities than those of great apes, and that Acheulian tools imply more than the preoperational cognitive abilities Wynn suggests. Finally, I suggest an alternative adaptive scenario for the evolution of hominid cognitive abilities.

Non‐invasive microanalytical methods have been devised to study the energy metabolism of single human preimplantation embryos. Psyruvate, which is added routinely to all media used to culture human embryos, is consumed throughout the preimplantation period, with glucose assuming an increasing role at embryo compaction and blastocyst formation. All of the glucose consumed may be accounted for by the appearance of lactate in the incubation medium. The enzyme hexokinase my be involved in regulating this aerobic glycolysis. There is cosiderable indirect evidence (...) for the utilisation of endogenous as opposed to exogenous energy substrates, the most likely candidate being protein. Information on early human embryo metabolismis likely to find application in a number of areas: these include the improvement of techniques for assisted human conception, notably in the selection of embryos for transfer following In Vitro Fertilisation; the diagnosis of gentic defects at the preimplantation stage; increased undersding of the causes of implantation failure and miscarriage, and the development of novel post‐coital contraceptives. (shrink)

The identification and avoidance of disease susceptibility in embryos is the most common goal of preimplantation genetic diagnosis (PGD). Most jurisdictions that accept but regulate the availability of PGD restrict it to what are characterized as ‘serious’ conditions. Line-drawing around seriousness is not determined solely by the identification of a genetic mutation. Other factors seen to be relevant include: impact on health or severity of symptoms; degree of penetrance (probability of genotype being expressed as a genetic disorder); potential for (...) therapy; rate of progression; heritability; and age of onset. In the original applications of PGD, most, if not all of these factors were seen as necessary but none was seen as sufficient for determining whether a genetic condition was labelled ‘serious’. This, however, is changing as impact on health or severity of symptoms is coming to eclipse the other considerations. This paper investigates how age of onset (primarily in the context of the United Kingdom (UK)) has become considerably less significant as a criterion for determining ethically acceptable applications of PGD. Having moved off the threshold of permitting PGD testing for only fatal (or seriously debilitating), early-onset diseases, I will investigate reasons for why age of onset will not do any work to discriminate between which adult-onset diseases should be considered serious or not. First I will explain the rationale underpinning age of onset as a factor to be weighed in making determinations of seriousness. Next I will challenge the view that later-onset conditions are less serious for being later than earlier-onset conditions. The final section of the paper will discuss some of the broader disability concerns at stake in limiting access to PGD based upon determinations of the ‘seriousness’ of genetic conditions. Instead of advocating a return to limiting PGD to only early-onset conditions, I conclude that the whole enterprise of trying to draw lines of what is to count as a ‘serious’ condition is itself problematic and in certain ways morally misleading. (shrink)

Tom Shakespeare’s book Disability rights and wrongs is very rich and interesting and ought to be compulsory reading for anyone interested in the relation between disability and medical ethics.1In my short contribution to this symposium on the book, I will focus on a particular aspect of his discussion of prenatal diagnosis and termination of pregnancy.In chapter 6 of Disability rights and wrongs, a chapter entitled Questioning prenatal diagnosis, the author discusses a wide range of issues concerning the relation (...) between disability and prenatal diagnosis. One of the arguments he discusses is the so-called “expressivist objection” to prenatal diagnosis—that is, the claim that prenatal diagnosis expresses a discriminatory or negative attitude towards people with disability. After having analysed the expressivist objection, Shakespeare, in line with a range of other authors, concludes that the argument is not sound: Nor should we interpret a decision to have a test or a termination as expressing disrespect or discrimination towards disabled people.1Is it thus time now to lay the expressivist objection to rest? In the following, I will suggest that it may be too early to completely dismiss the objection, partially because it is often misrepresented by its opponents, who argue against implausibly strong versions of the objection.THE OBJECTION UNFOLDEDWhat does the expressivist objection essentially claim? The core of the claim is, as described above, that prenatal diagnosis and termination of pregnancy expresses certain attitudes towards disabled people. What is taken to express these attitudes may be the social practice of prenatal diagnosis and termination of pregnancy either …. (shrink)

The right not to know is underappreciated in policy-making. Despite its articulation in medical law and ethics, policy-makers too easily let other concerns override the right not to know. This observation is triggered by a recent decision of the Dutch government on embryo selection for Huntington’s disease. This is a monogenetic debilitating disease without cure, leading to death in early middle age, and thus is a likely candidate for preimplantation genetic diagnosis. People possibly affected with the Huntington gene (...) do not always want to know their genetic status themselves, which is very burdensome knowledge. For prospective parents, this creates a difficulty in having unaffected children through embryo selection without knowing their own genetic status. A solution is provided by the exclusion test: it allows embryo selection while honouring the parents’ right not to know. The Dutch government however disallowed the exclusion test and chose to allow PGD on Huntington only for parents who test themselves first. To avoid “unnecessary” in-vitro fertilisation procedures for unaffected parents, prospective parents are “forced to know” before they can conceive through embryo selection. This article analyses the scope of the right not to know in the context of embryo selection against Huntington’s disease. It concludes that the right not to know implies that PGD against Huntington should be allowed by means of the exclusion test. (shrink)

A team of professionals considers whether a patient in her early 50s is developing Alzheimer’s. The patient is not experiencing the memory symptoms typical of that disease, with so far a few years of sporadic attentional lapses as the predominant cognitive complaint. Her most dramatic symptom is her impression that two versions of her husband live with her. One is her real husband, the other a “fake.” There is no elaborated story about who the fake is or why he (...) is there, and there is little in the way of behavior consistent with the idea. To the patient, there is a vague sense that her husband doesn’t belong in the house, but no clearly articulated... (shrink)

When a person at risk of having a child with a genetic illness or disease wishes to have an unaffected child, this can involve difficult choices. If the pregnancy is established by sexual intercourse, the fetus can be tested early in pregnancy, and if affected a decision can be made to abort in the hope that a future pregnancy with an unaffected fetus ensures. Alternatively, preimplantation genetic diagnosis can be used after in vitro fertilisation to select and implant (...) an unaffected embryo that hopefully will proceed to term and produce a healthy baby. We are aware that many individuals at risk regard the latter as ethically more acceptable than the former, and examine whether there is an ethical difference between these options. We conclude that PGD and implantation of an unaffected embryo is a more acceptable choice ethically than prenatal diagnosis followed by abortion for the following reasons: Choice after PGD is seen as ethically neutral because a positive result balances a negative result simultaneously . While there is usually the intention to establish a healthy pregnancy after an abortion, this is not simultaneous; A woman sees abortion as a personal physical violation of her integrity, and as the pregnancy proceeds she increasingly identifies with and gives ethical status to the embryo/fetus as it develops in utero and not in the laboratory; Many people see aborting a fetus as “killing”, whereas in the case of PGD the spare embryos are “allowed to die”. We argue that this difference of opinion gives further weight to our conclusion, but note that this has been addressed and debated at length by others. (shrink)

The modern editions of the Diagnostic and Statistical Manual of Mental Disorders, beginning with DSM-III in 1980, emerged in response to notable challenges to psychiatry’s practices and ways of knowing in the early 1970s. Because these challenges threatened psychiatry’s scientific self-understanding and moral authority, they exemplify what Alasdair MacIntyre has termed “epistemological crisis.” As a response to crisis, the modern DSM has been a stunning political achievement, providing the central diagnostic constructs around which psychiatric research, practice, and reimbursement has (...) been organized for four decades. Indeed, the DSM’s authority survives in the face of ongoing trenchant scientific and philosophical critique. But if psychiatry is to be healthy, it must be epistemologically humble, reckoning honestly with the limits of the DSM before a future epistemological crisis destabilizes it entirely. (shrink)

This book investigates the issue of “pure selection”–that is, choosing the genetic characteristics of one's children, without using abortion as the method to achieve this. Pure selection is made possible by the relatively new technology of preimplantation genetic diagnosis (PGD), in conjunction with now-routine IVF procedures for creating embryos. In PGD, a cell or cells can be extracted from an early embryo, and be subjected to genetic diagnosis of whatever kind, without damaging the embryo. So embryos with (...) the genetic make up favoured by the parents-to-be can be identified and transferred to the uterus, whilst those with non-favoured genetic make up can be discarded. Hence choice about the genetic characteristics of children is achieved without recourse to invasive procedures for prenatal diagnosis, and without termination of pregnancy, which is not only physically invasive, but also ethically controversial. The author firstly presents a case study of the events involved in the …. (shrink)

The size and organization of the brain are determined by the activity of progenitor cells early in development. Key mechanisms regulating progenitor cell biology involve miRNAs. These small noncoding RNA molecules bind mRNAs with high specificity, controlling their abundance and expression. The role of miRNAs in brain development has been studied extensively, but their involvement at early stages remained unknown until recently. Here, recent findings showing the important role of miRNAs in the earliest phases of brain development are (...) reviewed, and it is discussed how loss of specific miRNAs leads to pathological conditions, particularly adult and pediatric brain tumors. Let‐7 miRNA downregulation and the initiation of embryonal tumors with multilayered rosettes (ETMR), a novel link recently discovered by the laboratory, are focused upon. Finally, it is discussed how miRNAs may be used for the diagnosis and therapeutic treatment of pediatric brain tumors, with the hope of improving the prognosis of these devastating diseases. (shrink)