Testamentum tempore pestis: el derecho civil y la bioética frente al testamento en casos de epidemia / Testamentum tempore pestis Civil law and bioethics faced with the testament in cases of epidemics / Testamentum tempore pestis: o Direito civil e a bioética frente ao testamento em casos de epidemia

Resumen: El confinamiento por la pandemia del covid-19 afectó el otorgamiento de testamentos, siendo estos tan necesarios ante las crisis sanitarias cuando las personas precisan decidir el destino de sus bienes y otros actos individuales ante el riesgo de vida. La solemnidad del testamento impide el ejercicio de testar de los pacientes, incluso de las personas sanas. Facilitar el derecho de testar en tiempos de peste tiene contenido bioético, al estar de por medio la vida, salud, autodeterminación y el derecho de decidir el destino patrimonial. El testamento en épocas de pandemia, apoyado en las TIC, es una solución que debe viabilizarse con la ayuda de la digitalización y tecnología, con el fin de permitir el ejercicio de los derechos de última voluntad en aislamiento por contagio.

Abstract: The confinement due to the Covid pandemic affected the granting of wills, which are so necessary in the health crisis when people need to decide the fate of their property and other individual acts at the risk of life. The solemnity of the will impedes the exercise of testamentary rights of patients, even healthy people. Facilitating the right to testament in times of plague has a bioethical content since life, health, self-determination and the right to decide the destiny of property are at stake. The will in times of pandemic, supported by ICTs, is a solution that should be made feasible with the help of digitization and technology in order to allow the exercise of the rights of last will in isolation by contagion.

Resumo: O confinamento pela pandemia da covid-19 afetou a outorga de testamentos, sendo estes muito necessários durante as crises sanitárias, quando as pessoas precisam decidir o destino de seus bens e outros atos individuais diante do risco de vida. A solenidade do testamento impede o exercício de testar dos pacientes, inclusive das pessoas sadias. Facilitar o direito de testar em tempos de peste tem conteúdo bioético, al estar de por médio (no entendí el significado de esto) a vida, saúde, autodeterminação e o direito de decidir o destino patrimonial. O testamento em épocas de pandemia, apoiado nas TIC, é uma solução que deve viabilizar-se com a ajuda de digitalização e tecnologia, a fim de permitir o exercício dos direitos de última vontade no isolamento por contagio.

Evidence for germline non-genetic inheritance of human phenotypes and diseases.

It is becoming increasingly apparent that certain phenotypes are inherited across generations independent of the information contained in the DNA sequence, by factors in germ cells that remain largely uncharacterized. As evidence for germline non-genetic inheritance of phenotypes and diseases continues to grow in model organisms, there are fewer reports of this phenomenon in humans, due to a variety of complications in evaluating this mechanism of inheritance in humans. This review summarizes the evidence for germline-based non-genetic inheritance in humans, as well as the significant challenges and important caveats that must be considered when evaluating this process in human populations. Most reports of this process evaluate the association of a lifetime exposure in ancestors with changes in DNA methylation or small RNA expression in germ cells, as well as the association between ancestral experiences and the inheritance of a phenotype in descendants, down to great-grandchildren in some cases. Collectively, these studies provide evidence that phenotypes can be inherited in a DNA-independent manner; the extent to which this process contributes to disease development, as well as the cellular and molecular regulation of this process, remain largely undefined.

Impact of nicotine, alcohol, and cocaine exposure on germline integrity and epigenome.

Converging evidence suggests that parental exposure to drugs of abuse can affect offspring phenotypes. The impacts of drug abuse on germ cell quality may mediate multigenerational and transgenerational inheritance, although biological pathways underlying this mode of inheritance are not yet characterized. Germline epigenetic marks are modified by drug exposure and have emerged as promising mechanistic candidates in recent work. Drug exposure also impacts overall germline integrity and reproductive functioning, although the role of these consequences in multi/transgenerational inheritance is unclear. This review synthesizes literature on effects of exposure to alcohol, cocaine, and nicotine on the germline with a focus on epigenetic modifications following drug exposure and broader impacts on germline integrity and reproductive functioning. We discuss potential interactions between reproductive functioning, germline integrity, and germline epigenome/transcriptome in pathways underlying multi/transgenerational inheritance. We find that existing data may support independent or interactive contributions of these germline impacts on offspring phenotypes in a manner that may mediate multi/transgenerational inheritance.

The missing heritability of familial colorectal cancer.

Pinpointing heritability factors is fundamental for the prevention and early detection of cancer. Up to one-quarter of colorectal cancers (CRCs) occur in the context of familial aggregation of this disease, suggesting a strong genetic component. Currently, only less than half of the heritability of CRC can be attributed to hereditary syndromes or common risk loci. Part of the missing heritability of this disease may be explained by the inheritance of elusive high-risk variants, polygenic inheritance, somatic mosaicism, as well as shared environmental factors, among others. A great deal of the missing heritability in CRC is expected to be addressed in the coming years with the increased application of cutting-edge next-generation sequencing technologies, routine multigene panel testing and tumour-focussed germline predisposition screening approaches. On the other hand, it will be important to define the contribution of environmental factors to familial aggregation of CRC incidence. This review provides an overview of the known genetic causes of familial CRC and aims at providing clues that explain the missing heritability of this disease.

Nomeação e pecado original em lacan: um recorte a partir dos testemunhos de descendentes de nazistas notórios / Nomination and original sin in lacan: a reading from the testimonies of descendants of notorious nazis

RESUMO: O artigo investiga a relação entre nomeação e herança a partir da constatação lacaniana de que o sobrenome é símbolo do quinhão ao qual o sujeito tem acesso: o pecado dos pais tal como Kierkegaard o designa. Ao examinar a nomeação e o pecado herdado em Kierkegaard à luz da psicanálise, observamos aproximações entre esses elementos que podem atravessar o engajamento do sujeito com a sua história e o modo como se autoriza a ser chamado filho de.

Abstract: This study discusses the relation between nomination and inheritance starting from the Lacanian observation that the surname is a symbol of the legacy to which the subject has access: the parent's sin as Kierkegaard designates it. When examining, in the light of psychoanalysis, the nomination and ancestral sin in Kierkegaard, we observe approximations between these elements that can permeate the subject engagement with his history and the way he authorizes himself to be called son of.

Micronuclei and Genome Chaos: Changing the System Inheritance.

Micronuclei research has regained its popularity due to the realization that genome chaos, a rapid and massive genome re-organization under stress, represents a major common mechanism for punctuated cancer evolution. The molecular link between micronuclei and chromothripsis (one subtype of genome chaos which has a selection advantage due to the limited local scales of chromosome re-organization), has recently become a hot topic, especially since the link between micronuclei and immune activation has been identified. Many diverse molecular mechanisms have been illustrated to explain the causative relationship between micronuclei and genome chaos. However, the newly revealed complexity also causes confusion regarding the common mechanisms of micronuclei and their impact on genomic systems. To make sense of these diverse and even conflicting observations, the genome theory is applied in order to explain a stress mediated common mechanism of the generation of micronuclei and their contribution to somatic evolution by altering the original set of information and system inheritance in which cellular selection functions. To achieve this goal, a history and a current new trend of micronuclei research is briefly reviewed, followed by a review of arising key issues essential in advancing the field, including the re-classification of micronuclei and how to unify diverse molecular characterizations. The mechanistic understanding of micronuclei and their biological function is re-examined based on the genome theory. Specifically, such analyses propose that micronuclei represent an effective way in changing the system inheritance by altering the coding of chromosomes, which belongs to the common evolutionary mechanism of cellular adaptation and its trade-off. Further studies of the role of micronuclei in disease need to be focused on the behavior of the adaptive system rather than specific molecular mechanisms that generate micronuclei. This new model can clarify issues important to stress induced micronuclei and genome instability, the formation and maintenance of genomic information, and cellular evolution essential in many common and complex diseases such as cancer.

Intergenerational epigenetic inheritance of cancer susceptibility in mammals.

Susceptibility to cancer is heritable, but much of this heritability remains unexplained. Some 'missing' heritability may be mediated by epigenetic changes in the parental germ line that do not involve transmission of genetic variants from parent to offspring. We report that deletion of the chromatin regulator Kdm6a (Utx) in the paternal germ line results in elevated tumor incidence in genetically wild type mice. This effect increases following passage through two successive generations of Kdm6a male germline deletion, but is lost following passage through a wild type germ line. The H3K27me3 mark is redistributed in sperm of Kdm6a mutants, and we define approximately 200 H3K27me3-marked regions that exhibit increased DNA methylation, both in sperm of Kdm6a mutants and in somatic tissue of progeny. Hypermethylated regions in enhancers may alter regulation of genes involved in cancer initiation or progression. Epigenetic changes in male gametes may therefore impact cancer susceptibility in adult offspring.

Fear of imminent death - use of evidence in forensic-psychiatric expertise. / Obawa rychlej smierci ­ wykorzystanie materialu dowodowego w ekspertyzie sadowo-psychiatrycznej.

In accordance with the Polish civil law, there are at least several ways to dispose of property in the event of death. One of them is a special form of oral testament. The main issue to be determined by the court is to either confirm or deny the existence of fear of imminent death of the testator at the time of bequest. For this purpose, the court uses expert psychiatrists' opinions. The article presents a case of a man in the terminal phase of a malignant disease who used an oral form of bequest. Such cases are relatively rare and therefore the described case is intended to illustrate the complex nature of the expertise. It points to the need for the experts to take into account complex legal regulations, the observance of which stipulates the possibility of using this form of will. Factual assessment of the witnesses' testimony complicates elaboration of the material, as the testimony is generally contradictory. It was proposed that the witnesses' testimony should be sorted out in terms of substance (psychopathology), based on the analysis of the separated research areas. Medical records can be treated not only as a source of information about the dynamics of somatic diseases of the testator and secondary changes in his/her mental state. It can also be a valuable source of knowledge about the testator's attitude to health and disease issues, treatment processes, prognosis, threat to his/her life and death.

GAS5 genomic variants and risk of multiple sclerosis.

The lncRNA Growth arrest-specific 5 (GAS5) has crucial roles in the apoptosis, suppression of cell growth and regulation of response to glucocorticoids. Previous studies have demonstrated its role in the pathogenesis of some immune-related disorders such as systemic lupus erythematosus and multiple sclerosis (MS). In the current study, we genotyped two possibly functional GAS5 polymorphisms (rs2067079 and rs6790) in 810 individuals including 410 MS patients and 400 age and sex-matched healthy subjects. There was a significant over-representation of the rs2067079 T allele in MS patients compared with healthy individuals (OR (95% CI) = 1.38 (1.12-1.71), adjusted P value = 0.008). This SNP was associated with MS risk in co-dominant and recessive models (OR (95% CI) = 2.70 (1.54-4.76), adjusted P value = 0.003; OR (95% CI) = 2.58 (1.5-4.42), adjusted P value = 7.9E-4 respectively). The rs6790 was not associated with MS risk in any inheritance models. The T G haplotype (rs2067079 and rs6790 respectively) was significantly more prevalent among cases compared with controls (OR (95% CI) = 1.48 (1.16-1.89), adjusted P value = 0.005). Our results further highlight the role of GAS5 in the pathogenesis of MS.

Meiotic inheritance of a fungal supernumerary chromosome and its effect on sexual fertility in Nectria haematococca.

PDA1-conditionally dispensable chromosome (CDC) of Nectria haematococca MP VI has long served as a model of supernumerary chromosomes in plant pathogenic fungi because of pathogenicity-related genes located on it. In our previous study, we showed the dosage effects of PDA1-CDC on pathogenicity and homoserine utilization by exploiting tagged PDA1-CDC with a marker gene. CDC content of mating partners and progenies analyzed by PCR, PFGE combined with Southern analysis and chromosome painting via FISH. In this study, we analyzed mode of meiotic inheritance of PDA1-CDC in several mating patterns with regard to CDC content and found a correlation between CDC content of parental strains with fertility of crosses. The results showed non-Mendelian inheritance of this chromosome followed by duplication or loss of the CDC in haploid genome through meiosis that probably were due to premature centromere division, not by nondisjunction as reported for the supernumerary chromosomes in other species. Correlation of CDC with fertility is the first time to be examined in fungi in this study.

Short communication: Genetic relationships between functional longevity and direct health traits in Austrian Fleckvieh cattle.

The aim of this study was to conduct a multitrait 2-step approach applied to yield deviations and deregressed breeding values to get genetic parameters of functional longevity, clinical mastitis, early fertility disorders, cystic ovaries, and milk fever of Austrian Fleckvieh cattle. An approximate multitrait approach allows the combination of information from pseudo-phenotypes derived from different statistical models in routine genetic evaluation, which cannot be estimated easily in a full multitrait model. A total of 66,890 Fleckvieh cows were included in this study. For estimating genetic parameters, a simple linear animal model with year of birth as a fixed effect and animal as a random genetic effect was fitted. The joint analysis of yield deviations and deregressed breeding values was feasible. As expected, heritabilities were low, ranging from 0.03 (early fertility disorders) to 0.15 (functional longevity). Genetic correlations between functional longevity and clinical mastitis, early fertility disorders, cystic ovaries, and milk fever were 0.63, 0.29, 0.20, and 0.20, respectively. Within direct health traits genetic correlations were between 0.14 and 0.45. Results suggest that selecting for more robust disease-resistant cows would imply an improvement of functional longevity.

El debate en tonno a la validez de las directivas anticipadas en saudd / The debat on thee validity of advance directives for health / O debate sobrea validade das diretrizes antecipadas em saúde

Las directivas anticipadas (también llamadas "testamentos vitales") son documentos firmados por un individuo competente en los cuales se estipulan directivas acerca del permiso de aplicación o el rechazo de tratamientos médicos en el caso de que el individuo que las redactó no se encuentre capacitado para manifestar su voluntad. A pesar del buen recibimiento que han tenido por parte de la comunidad bioética mundial, su validez ha sido fuertemente cuestionada. En este trabajo me propongo analizar en profundidad las fallas que sus detractores señalan e intentaré ofrecer una alternativa superadora de la versión clásica de estos documentos que logre escapar a las críticas que durante décadas se les han formulado.

Advance directives (also called "living wills") are documents signed by a competent individual providing directives as to the permission to apply or to reject medical treatments in the event that the individual who wrote it may not be in a position to declare his or her will. Despite the good reception from the global bioethics community, their validity has been seriously questioned. In this paper, I intend to analyze in depth the faults mentioned by its detractors and I will try to offer an alternative that is superior to the classic version of these documents and manage to escape the criticism which, for decades, they have been subject to.

As diretrizes antecipadas (também chamadas "testamentos vitais") são documentos firmados por um indivíduo competente nos quais se estipulam diretrizes sobre a permissão de aplicação ou a recusa de tratamentos médicos no caso de o indivíduo que as redigiu não se encontrar capacitado para manifestar sua vontade. Apesar do bom recebimento que têm tido por parte da comunidade bioética mundial, sua validade tem sido fortemente questionada. Neste trabalho, propõe-se analisar em profundidade as falhas que seus detratores sinalizam e se tentará oferecer uma alternativa que supere a versão clássica desses documentos e consiga, assim, fugir das críticas que, durante décadas, lhes são formuladas.

Inheritances, health and death.

We examine how wealth shocks, in the form of inheritances, affect the mortality rates, health status and health behaviors of older adults, using data from eight waves of the Health and Retirement Survey. Our main finding is that bequests do not have substantial effects on health, although improvements in quality-of-life are possible. This absence occurs despite increases in out-of-pocket spending on healthcare and in the utilization of medical services, especially discretionary and non-lifesaving types such as dental care. Nor can we find a convincing indication of changes in lifestyles that offset the benefits of increased medical care. Inheritances are associated with higher alcohol consumption, but with no change in smoking or exercise and a possible decrease in obesity.

Redes familiares e herança material: a passagem de testemunho / Family networks and material inheritances: passing on the testimony

Este estudo procura aprofundar o conhecimento sobre o processo de transmissão da herança material nas famílias envelhecidas, estudando perfis de transmissão do legado (o que é transmitido, a quem, como e quando?), dinâmicas de entreajuda entre doadores e herdeiros e suas implicações na satisfação familiar. Os resultados sugerem que a herança constitui um processo normativo da vida familiar na velhice, envolvendo a reorganização da gestão dos bens familiares e a sua transmissão (passagem do testemunho financeiro).

This study aims to deepen the knowledge about the process of material inheritance transmission in later life families, by studying the profiles of transmission of material legacy (what is transmitted, to whom, when and how?), the dynamics of support between donors and heirs and their influence on family satisfaction. Main results suggest that material inheritance is a normative process in later life families, involving the reorganization of the management of families’ material property and its transmission (passing on financial testimony).

Terra, família e trabalho entre descendentes de pomeranos no Espírito Santo / Land, family, and work among pomeranian descendants in Espírito Santo State, Brazil

Trata-se de investigação realizada com descendentes de pomeranos que vivem em Santa Maria do Jetibá, um município serrano da região central do Estado do Espírito Santo, no Brasil. Buscou-se identificar e discutir de que forma se inter-relacionam práticas e costumes adotados na rotina diária, características da constituição das famílias, e forma de lidar com a herança da terra em relação aos descendentes. Foram entrevistados individualmente oito homens e oito mulheres, com idades variando de 18 a 81 anos, e que constituem oito casais. Quatro desses casais se formaram há mais de 50 anos, em meados do século XX e os outros quatro se casaram no início do século XXI. Os resultados revelaram algumas ocorrências muito similares a despeito do grande intervalo de tempo, compreendido entre o momento dos casamentos dos integrantes dos dois conjuntos de participantes, mas mostraram também maior flexibilidade de papéis dentro das famílias, assim como nas normas de organização da ocupação da terra herdada pelos filhos, tendo sido incluídas aí também as filhas.

This investigation took place with descendants of Pomeranians living in Santa Maria do Jetibá, a central Espírito Santo state highland county, in Brazil. It was attempted to identify and discuss the way daily routine practices and customs interrelate, characteristics of family constitution, and ways to deal with land inheritance with respect to descendants. Couples of Pomeranian descent who constituted marriage in two moments apart were interviewed. Eight men and eight women were interviewed, with ages varying from 18 to 81 years, who constitute eight couples. Four of these couples were formed more than 50 years ago, in mid 20th century, and the other four got married in early 21st century. The results reveal some very similar occurrences despite the long time interval between the marriages of the in the integrants of the two sets of participants, but also showed more role flexibility, within the families as well as on the organization rules for inherited land occupation by the children, having the daughters also being included in the division.

Legal decision-making by people with aphasia: critical incidents for speech pathologists.

BACKGROUND: The assessment and management of a person with aphasia for whom decision-making capacity is queried represents a highly complex clinical issue. In addition, there are few published guidelines and even fewer published accounts of empirical research to assist. AIMS: The research presented in this paper aimed to identify the main issues for speech pathologists when decision-making capacity for legal and related matters arose for their clients with aphasia, and to describe qualitatively the nature of these issues and the practices of the speech pathologists in these situations. METHODS AND PROCEDURES: The methodology was informed by the qualitative research paradigm and made use of the semi-structured interview methods developed for the Critical Incident Technique. Nine speech pathologists, with a range of clinical experience between three and 27 years, were interviewed by telephone, with verbatim notes being taken on-line by the interviewer. The speech pathologists described a total of 21 clients (15 male, six female) with acquired neurological communication disorders (including cerebral vascular accident, traumatic brain injury, and tumour) whose care had raised critical incidents for the speech pathologist in relation to legal and related matters. These verbatim notes were qualitatively analysed using NVivo qualitative analysis software. OUTCOMES AND RESULTS: The main incidents related to legal decisions (for example, power of attorney, will-making), as well as decisions involving consent for medical treatment, discharge, accommodation, and business/financial decisions. In all but one of the incidents recounted, the issues centred on a situation of conflict between the person with aphasia and their family, friends or with the multidisciplinary team. The roles taken by the speech pathologists ranged from those expected within a speech pathology scope of practice, such as that of assessor and consultant, to those which arguably present dilemmas and conflict of interest, for example, interpreter, advocate. The assessment practices involved some standardized testing, but this was stressed by all participants to be of lesser importance than informal observations of function. Speech pathologists emphasized the importance of multiple observations, and multimodal means of communication. CONCLUSIONS AND IMPLICATIONS: The findings indicate that speech pathologists are currently playing an active role when questions arise regarding capacity for legal and related decision-making by people with aphasia. At the same time, the findings support the need for further research to develop guidelines for practice and to build educational experiences for students and novice clinicians to assist them when they engage with the complex case management issues in this area.

[Relationship between reduced expression of surfactant protein B and neonatal respiratory distress syndrome in twenty Han ethnic group neonates in China].

OBJECTIVE: To investigate possible relationship between expression of surfactant protein B (SP-B) gene product and neonatal respiratory distress syndrome (NRDS) in Han ethnic group. METHOD: Unrelated 20 cases with NRDS of Han ethnic group were selected as NRDS group while unrelated 20 diseases cases of Han ethnic group with diseases were selected as control group. The cases in the control group had congenital heart disease or bronchopulmonary dysplasia or persistent pulmonary hypertension. Blood sample was taken from every case. Lung tissues were taken from the patients who died half an hour after death in the two groups. Expression of SP-B in lung tissue was determined with immunohistochemical tecnique. Genetic deficiency variant of SP-B intron IV was screened with polymerase chain reaction (PCR). RESULTS: Two cases at gestational age 26 weeks and one case at gestational age 34 weeks and two cases at gestational age 42 weeks of NRDS groups had lower level expression of SP-B in lung tissue than those at the same age of NRDS. Expression of SP-B in lung tissue of control group increased with gestational age, but no such phenomenon was found in NRDS group. Further, two cases at gestational age 42 weeks of NRDS group had genetic deficiency variant of SP-B intron IV with gene analysis of five cases who had lower expression of SP-B. Clinical data suggest that patients at 42 weeks of gestational age had severe illness. CONCLUSIONS: Decrease of SP-B expression may participate in occurrence of NRDS, genetic deficiency variant of SP-B intron IV exists in the NRDS cases of Han ethnic group of China.

Beyond death: inheriting the past and giving to the future, transmitting the legacy of one's self.

This study explores the phenomenon of legacy as a component of the aging experience among women. Against a backdrop of prior focus on transmission of material possessions as the primary form of legacy, the concept is critically examined in developing an expanded, theoretically and empirically grounded perspective. In-depth interviews with 38 women, ranging in age from 31 to 94 and representing diverse marital, parental, and health statuses, reveal multiple dimensions of leaving a legacy in terms of content, creation, and transmission. Through the stories of the participants in this study, legacy emerges as a means of passing on the essence of one's self, in particular one's values and beliefs. Legacy is a method of leaving something behind after death and making meaning of the end of life. The desire to leave a legacy is manifest in many different ways dependent on the individual and their culture. While the idea of legacy is often couched in terms of material possessions, it appears that passing on values and beliefs is more important to older adults.