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Inbreeding depression is the reduction of performance caused by mating of close relatives. In livestock populations, inbreeding depression has been traditionally estimated by regression of phenotypes on pedigree inbreeding coefficients. This estimation can be improved by utilising genomic inbreeding coefficients. Here we estimate inbreeding depression for the insect bite hypersensitivity (IBH) prevalence, the most common allergic horse disease worldwide, in Old Kladruber horse. In a deep pedigree with 3,214 horses (187 genotyped) we used a generalized linear mixed model with IBH phenotype from 558 horses examined between 1996 and 2009 (1,368 records). In addition to the classical pedigree information, we used the single-step approach that enabled joint use of pedigree and genomic information to estimate inbreeding depression overall genome and ELA class II (equine leuckocyte antigens) region. Significant inbreeding depression was observed in all models fitting overall inbreeding coefficients (odds ratio between 1.018 and 1.074, P

espanolDarwin sento los pilares de la evolucion de los organismos cuando definio la seleccion natural y sexual en el siglo XIX. Al mismo tiempo, el entusiasmo por los programas de cria selectiva de plantas y animales, a menudo respaldados por familias adineradas y la aristocracia, dio lugar a la aparicion de nuevas razas a un ritmo nunca visto y que aun se mantiene. Desde entonces, las razas seleccionadas durante milenios y adaptadas a las condiciones locales comenzaron a desaparecer o se vieron abocadas a la extincion al ser sustituidas por estas razas nuevas y estandarizadas. Por lo tanto, vale la pena estudiar como surgieron las nuevas razas y cuales fueron los criterios de quienes las crearon. Darwin parecia no darse cuenta de que sus contemporaneos estaban practicando una forma de seleccion sexual interespecifica que favorecia la fijacion de rasgos exagerados, a menudo claramente ornamentales, en las nuevas razas que pretendian crear. La eleccion de los animales progenitores fue realizada por criadores que persiguieron objetivos particulares, muy a menudo con criterios esteticos en mente. Hemos investigado quienes fueron los fundadores de las razas modernas de cinco especies domesticadas (perros, gatos, cerdos, caballos y vacunos), ya que muy a menudo se atribuye a una sola persona la creacion de la raza. Encontramos informacion sobre los fundadores de 459 razas, de las cuales 270 fueron creadas despues del ano 1800. Como curiosidad, para estas especies, la creacion de razas se atribuye abrumadoramente a hombres, pero en la naturaleza, son las hembras quienes suelen elegir las parejas, lo que se considera un rasgo adaptativo. Sin embargo, los criadores de la epoca victoriana carecian de esas habilidades adaptativas y de suficientes conocimientos cientificos. La seleccion de individuos con una expresion extrema de los rasgos deseados, que a menudo eran parientes cercanos, resulto en una alta endogamia y en trastornos geneticos. EnglishDarwin set the pillars of organismic evolution when he defined natural and sexual selection in the 19th century. Concurrently, a frenzy of selective breeding programmes, generally supported by the wealthy and aristocratic, gave rise to novel breeds of plants and animals at a rate that was previously unforeseen. Since then, breeds selected over millennia and adapted to local conditions began to disappear or were threatened with extinction, being substituted by these new, standardized breeds. It is of interest to explore how new breeds emerged and what the main criteria of the founders of these breeds were. Darwin seemed to be unaware that his contemporaries were practicing a form of interspecific sexual selection responsible for the fixation of exaggerated traits, often plainly ornamental, in the new breeds they intended to create. Parent animals were chosen by individuals who were following particular goals, often with aesthetic criteria in mind. Here we investigated who were the founders of modern breeds in five domesticated species (dogs, cats, pigs, horses and cattle), as very often a single person is credited with the creation of a breed. We found information on founders of 459 breeds, 270 of which were created after 1800. Interestingly, for these species, breed creation is overwhelmingly attributed to men. In the wild, however, the choice of mate is usually performed by the female of a species and thought to be adaptive. Breeders in the Victorian era, nevertheless, lacked such adaptive skills and had little scientific knowledge. The selection of individuals with an extreme expression of the desired traits were often close relatives, resulting in high inbreeding and a variety of genetic disorders

Although the family burden of mental health problems on patients’ close relatives was widely acknowledged, little was known about how mental health problems affected the quality of life of other types of social relationships of patients, through what mechanisms, and under what conditions. The study aims to explore the burden on all types of relationships of mental health patients and explain why and when the burden is unequal across different relationships. The association between different types of relationships and the levels of burden was examined with dyadic data of 1178 patient-acquaintance relationships in the United States and random effects multilevel models. Frequency of contacts was tested as a mediator. The severity of mental health problems was tested as a moderator. All types of relationships of patients borne a significant burden. Close relatives including parents, spouses, children, and siblings suffered a greater burden than distant relatives and non-relatives. The unequal burden was partly explained by the frequency of contacts with patients. The burden of close relatives significantly increased when patients’ mental health problems were more severe. Mental health patients put a burden on their frequent contacts outside core families, especially when their problems were more severe. Public health policies should attend to the quality of life of mental health patients’ all types of acquaintances in the wider society.

International audience; Purpose:The main objective of this study was to provide further information concerning the validity of patient-reported executive function (EF) in survivors of primary brain tumor (PBT) compared with a report provided by each patient’s caregiver.Methods: Forty survivors of PBT, 40 non-cancer controls and their proxies completed an assessment of functional executive disorders (e.g., planning, inhibition, shifting, action initiation). Comparisons of self and informant EF reports were examined, for both patients and non-cancer controls. The extent of the concordance between patients’ reports and their caregivers’ reports was also determined.Results: PBT survivors and their caregivers reported more problems related to EF in contrast with the non-cancer comparison group (significant differences). There was a high level of agreement between patients’ and caregivers’ ratings within the patient group.Conclusions: This study provides evidence suggesting that at an average of 3.67 (SD = 2.31) years following treatment for a PBT, EF difficulties are reported by patients and their caregivers. This study establishes a consistency between what is reported by survivors and what is reported by those who frequently interact with them. Further research investigating the link between these ratings and quality of life as well as other functions is encouraged.Implications for Cancer Survivors: This study’s results demonstrate the importance of listening to PBT survivors’ perception of EF difficulties. While not confirmed by neuropsychological evaluations, the functional executive challenges reported by these survivors’ close relatives reflect what PBT survivors themselves report. Specialists should pay close attention to these difficulties to guarantee optimal post-cancer care.

Objective. To study the risk factors of noncommunicable disease spread in adolescents based on the mass pole results.Methods. The authors conducted four waves of study within the framework of the monitoring project “Risk factors for human health” in 2014–2017. The study included a multistage stratified territorial random sample of 1,691 patients over 11 years. The research population included 170 adolescents (11–19 years) (10%).Results. An adverse profile of risk factors for noncommunicable diseases was predetermined by: overweight in adolescents (10%), increased blood pressure (18%), unfavorable history of cardiovascular events in close relatives (60–70%), nutritional disorders (80–96%) , low level of physical activity (5%), smoking (20%), and alcohol consumption (26% of respondents). The body weight deficiency (35%) and overweight (10%), along with sufficient consumption of fresh vegetables and fruits in only 7% of cases reflects gross malnutrition of adolescents, which determines their future development. Awareness of adolescents of the main risk factors for noncommunicable diseases remains low (less than 30–40% for different factors). The example of close relatives, friends and stressful situations predetermine the emergence of bad habits (consumption of alcohol and tobacco) in adolescents.Scope of application. Pediatrics, public health, epidemiology.Conclusion. In order to correct adverse risk factors of noncommunicable diseases, it is necessary to attract a wide range of specialists, including intensive family and personal psychological consultations with adolescents. These measures will motivate adolescents to a healthy lifestyle and reduce the burden of noncommunicable diseases in the population of the Russian Federation.

The aim of this study was to investigate the association between relatives’ interpersonal functioning and patients’ recovery after severe traumatic brain injury (TBI) across one year in Switzerland...

This study explores how a family member with substance use disorder (SUD) affects the psychosocial, behavioral, and physical states of other family members. Sixteen in-depth interviews with relativ...

Understanding when and why new species are recruited into microbial communities is a formidable problem with implications for managing microbial systems, for instance by helping us better understand whether a probiotic or pathogen would be expected to colonize a human microbiome. Much theory in microbial temporal dynamics is focused on how phylogenetic relationships between microbes impact the order in which those microbes are recruited; for example species that are closely related may competitively exclude each other. However, several recent human microbiome studies have observed closely-related bacteria being recruited into microbial communities in short succession, suggesting that microbial community assembly is historically contingent, but competitive exclusion of close relatives may not be important. To address this, we developed a mathematical model that describes the order in which new species are detected in microbial communities over time within a phylogenetic framework. We use our model to test three hypothetical assembly modes: underdispersion (species recruitment is more likely if a close relative was previously detected), overdispersion (recruitment is more likely if a close relative has not been previously detected), and the neutral model (recruitment likelihood is not related to phylogenetic relationships among species). We applied our model to longitudinal human microbiome data, and found that for the individuals we analyzed, the human microbiome generally follows the underdispersion (i.e. nepotism) hypothesis. Exceptions were oral communities and the fecal communities of two infants that had undergone heavy antibiotic treatment. None of the data sets we analyzed showed statistically significant phylogenetic overdispersion.

Background: It is of great importance to understand how patients and their close relatives experience the pros and cons of advanced home care so as to further develop this quickly growing choice of care. Objective: The aim of this study was to explore the experiences of receiving advanced home care among patients affected by life-threatening illness and their close relatives. Design: The study was an interview study conducted with patients in their homes. Some patient interviews were conducted together with a close relative participating. Setting/Participants: Patients registered in advanced home care in 2017 were offered the opportunity to participate in the study. The selection criteria were that the patient was within grade 3 of the Eastern Cooperative Oncology Group’s Performance Status, older than 18 years, able to orient to time and place, and not newly registered. Analysis: The interviews were recorded and transcribed verbatim and analyzed with qualitative content analysis. Results: A total of 11 interviews were conducted: 8 with patients and 1 or 2 close relatives together; and 3 with the patient alone. It resulted in 3 main categories: create a safe environment, see the person, and better to manage care at home. Conclusion: The results of this study show that patients and close relatives perceived that advanced home care was a safe and secure form of caring during advanced as well as end-of-life care.

Delusional parasitosis, also known as delusional infestation or Ekbom syndrome, is a relatively infrequent psychotic disorder characterized by an unwavering false belief that there is a parasitic infestation of the skin, despite the absence of any medical evidence that could support this claim. Delusional parasitosis can be categorized into primary, secondary, and organic forms. Sometimes, close relatives also experience identical delusions. This phenomenon was reported to occur in 5–15% of cases, and is known as shared psychotic disorder–delusional parasitosis with folie à deux. Patients with delusional parasitosis frequently seek help from many physicians. Close multidisciplinary cooperation between clinicians is often key to shortening the time taken to diagnose this disorder. Initiation of psychopharmacological therapy is a challenge, as many patients refuse any psychiatric treatment because of the stigma associated with mental illness and because of their firm belief that they have a parasitic infestation, not a psychiatric condition. For many patients, a sense of a lack of understanding leads to isolation and the development of depression symptoms, which is why it is crucial to earn the trust of such patients while taking care of them.

The Neotropical legume genera Zygia and Marmaroxylon have traditionally been considered closely related and are sometimes treated as congeners. They have been referred to the mimosoid tribe Ingeae based on their possession of flowers with basally fused stamen filaments. However, their systematic status and position have not been analysed in a phylogenetic context. This study provides the first molecular phylogeny of Zygia and Marmaroxylon and closely related mimosoid legume genera, particularly from the tribe Ingeae. DNA sequence data were derived from the nuclear external transcribed spacer (ETS) and the internal transcribed spacer (ITS), and from the chloroplast psbA-trnH and trnL-trnF regions, and were analysed using Bayesian inference. In all, 29 species of Zygia and 7 species of Marmaroxylon were included in the study along with representative species from the closely related genera Abarema, Acacia s.str., Archidendropsis, Calliandra, Chloroleucon, Cojoba, Faidherbia, Havardia, Hydrochorea, Inga, Leucochloron, Macrosamanea, Pithecellobium, Pseudosamanea, Samanea, Senegalia, Vachellia and Zapoteca. The results show that neither Zygia nor Marmaroxylon are monophyletic as presently circumscribed. Furthermore, these two genera are not monophyletic together. None of the nine presently recognized sections of Zygia that contain more than one species are shown to be monophyletic. Two of the monospecific sections of Zygia, sect. Ingopsis (Z. inundata) and sect. Pseudocojoba (Z. sabatieri), were found in a clade together with species of Inga. Marmaroxylon ocumarense and M. magdalenae, previously treated as synonyms (as Zygia), are not conspecific, and are found in a clade with Macrosamanea and in a clade with species of Abarema and Hydrochorea, respectively. Our results also show the Inga alliance to be non-monophyletic. In correspondence with the results presented, all species referred to Marmaroxylon, except for M. ocumarense and M. magdalenae, are here included in Zygia, and Z. inundata is treated in Inga, in which genus it was first described.

Metagenomic sequence classification should be fast, accurate and information-rich. Emerging long-read sequencing technologies promise to improve the balance between these factors but most existing methods were designed for short reads. MetaMaps is a new method, specifically developed for long reads, capable of mapping a long-read metagenome to a comprehensive RefSeq database with >12,000 genomes in 94% accuracy for species-level read assignment and r2 > 0.97 for the estimation of sample composition on both simulated and real data when the sample genomes or close relatives are present in the classification database. To address novel species and genera, which are comparatively harder to predict, MetaMaps outputs mapping locations and qualities for all classified reads, enabling functional studies (e.g. gene presence/absence) and detection of incongruities between sample and reference genomes., Sequencing platforms, such as Oxford Nanopore or Pacific Biosciences generate long-read data that preserve long-range genomic information but have high error rates. Here, the authors develop MetaMaps, a computational tool for strain-level metagenomic assignment and compositional estimation using long reads.

Natal dispersal likely plays an important role in avoiding inbreeding among large carnivores. We tested the hypothesis that male-biased dispersal reduces close inbreeding by limiting the spatial overlap of opposite-sex pairs of close relatives in brown bears (Ursus arctos) in the Shiretoko Peninsula, Hokkaido, Japan. We genotyped 837 individuals collected in 1998–2017 at 21 microsatellite loci and performed parentage analysis. To calculate natal dispersal distance, we considered the site where the mother was identified as the birthplace of her offspring, and the site where the offspring were identified as their dispersed place. As predicted, we found that dispersal distances were significantly greater for males (12.4 km ± 1.0) than for females (7.7 km ± 0.9), and those for males increased from 3 years old, indicating that males begin to disperse around the time sexual maturation begins. Relatedness decreased with distance among pairs of females, and the mean relatedness was significantly higher between pairs of females than between pairs of males or between female–male pairs within 3 km. Closely related female–male pairs rarely (5–6%) resided in close proximity (< 3 km), compared with pairs of closely related females. Our study revealed that the potential for close inbreeding was low in Hokkaido brown bears because males are effective dispersers.

Background: Schizophrenia is a chronic mental illness that strongly affects not only the patients with schizophrenia, but also their families and close relatives. So far, family research on patients with schizophrenia has mainly focused on parents, but has neglected siblings. Aim: This study aims to evaluate the well-being of 103 siblings of patients with schizophrenia within the Lazarus and Folkman’s Transactional Coping and Stress Model. Materials: A Sociodemographic Information Form, Subjective Well-being Scale, Zarit Caregiver Burden Scale, Multidimensional Perceived Social Support Scale, Ways of Coping Scale and Shortened Perceived Parental Rearing Styles Form were administered to the siblings of patients with schizophrenia. Results: The results of this study revealed that well-being was associated with perceived mother overprotection, perceived social support, problem-focused coping and indirect coping. Social support moderated the relationship between burden and well-being as a buffering factor. Conclusion: Therefore, siblings of patients with schizophrenia should be given access to social support and their problem-focused coping strategies should be strengthened. Besides, parents should be supported to provide suitable care for the siblings of patients with schizophrenia.

ObjectiveThe inherited component for Alzheimer disease (AD) risk has focused on close relatives; consideration of the full family history may improve accuracy and utility of risk estimates.MethodsA population resource including a genealogy of Utah pioneers from the 1800s linked to Utah death certificates was used to estimate relative risk for AD based on specific family history constellations, including from first- to third-degree relatives.ResultsAny affected first-degree relatives (FDR) significantly increased risk of AD (≥1 FDRs: relative risk [RR] 1.73, 95% confidence interval [CI] [1.59–1.87]; ≥2 FDRs: RR 3.98 [3.26–4.82]; ≥3 FDRs: RR 2.48 [1.07–4.89]; ≥4 FDRs: RR 14.77 [5.42–32.15]). Affected second-degree relatives (SDR) increased risk even in the presence of affected FDRs (FDR = 1 with SDR = 2: RR 21.29 [5.80–54.52]). AD only in third-degree relatives (TDR) also increased risk (FDR = 0, SDR = 0, TDR ≥3: RR 1.43 [1.21–1.68]). Mixed evidence was observed for differences in risk based on maternal compared to paternal inheritance; higher risks for men than women with equivalent family history, and higher risk for individuals with at least one affected FDR regardless of the relative's age at death, were observed.ConclusionsThis population-based estimation of RRs for AD based on family history ascertained from extended genealogy data indicates that inherited genetic factors have a broad influence, extending beyond immediate relatives. Providers should consider the full constellation of family history when counseling patients and families about their risk of AD.

Effective conservation and management of pond‐breeding amphibians depends on the accurate estimation of population structure, demographic parameters, and the influence of landscape features on breeding‐site connectivity. Population‐level studies of pond‐breeding amphibians typically sample larval life stages because they are easily captured and can be sampled nondestructively. These studies often identify high levels of relatedness between individuals from the same pond, which can be exacerbated by sampling the larval stage. Yet, the effect of these related individuals on population genetic studies using genomic data is not yet fully understood. Here, we assess the effect of within‐pond relatedness on population and landscape genetic analyses by focusing on the barred tiger salamanders (Ambystoma mavortium) from the Nebraska Sandhills. Utilizing genome‐wide SNPs generated using a double‐digest RADseq approach, we conducted standard population and landscape genetic analyses using datasets with and without siblings. We found that reduced sample sizes influenced parameter estimates more than the inclusion of siblings, but that within‐pond relatedness led to the inference of spurious population structure when analyses depended on allele frequencies. Our landscape genetic analyses also supported different models across datasets depending on the spatial resolution analyzed. We recommend that future studies not only test for relatedness among larval samples but also remove siblings before conducting population or landscape genetic analyses. We also recommend alternative sampling strategies to reduce sampling siblings before sequencing takes place. Biases introduced by unknowingly including siblings can have significant implications for population and landscape genetic analyses, and in turn, for species conservation strategies and outcomes.

OBJECTIVE Severe traumatic brain injury (sTBI) is accompanied by significant declines in self-rated health (SRH). Although such deteriorations in SRH are related to various consequences of sTBI, the effect of posttraumatic reactions (i.e., posttraumatic stress [PTS] symptoms) has been tested insufficiently to date, especially among civilians. The present investigation is based on Trajectories of Recovery After Severe Traumatic brain injury-Matters In families (TRAST-MI), a unique study among civilians with sTBI and their families. Previous research revealed that civilian sTBI has effects beyond the injured patient, influencing their close relatives as well. The aim of this study was to assess the association between PTS symptoms and SRH among patients with civilian sTBI and their close relatives. METHODS Patients with sTBI (assessed by an Abbreviated Injury Scale of the head region score >3) and their close relatives participated in TRAST-MI. One hundred twenty-six patient-relative dyads were assessed at 3, 6, and 12 months after the injury. RESULTS Multilevel modeling revealed that patients' PTS symptoms were associated with consequent SRH (slope = 0.42; p < .001), and relatives' PTS symptoms were associated with their respective SRH (slope = 0.2; p = .012). CONCLUSIONS The findings of this study reveal that SRH of both patients with sTBI and their relatives are negatively affected by their own PTS symptoms. These findings underline the understanding that sTBI is not merely a medical trauma but rather a comprehensive psychosocial trauma, which has consequences for the whole family system.

How do brain size and proportions relate to ecology and evolutionary history? Here, we use virtual endocasts from 38 extinct and extant rodent species spanning 50+ million years of evolution to assess the impact of locomotion, body mass, and phylogeny on the size of the brain, olfactory bulbs, petrosal lobules, and neocortex. We find that body mass and phylogeny are highly correlated with relative brain and brain component size, and that locomotion strongly influences brain, petrosal lobule, and neocortical sizes. Notably, species living in trees have greater relative overall brain, petrosal lobule, and neocortical sizes compared to other locomotor categories, especially fossorial taxa. Across millions of years of Eocene-Recent environmental change, arboreality played a major role in the early evolution of squirrels and closely related aplodontiids, promoting the expansion of the neocortex and petrosal lobules. Fossoriality in aplodontiids had an opposing effect by reducing the need for large brains., Bertrand and colleagues use virtual endocasts from a variety of living and extinct rodent species to assess the effect of locomotion, body mass and phylogeny on the size of the brain and three of its components. Their findings indicate that arboreal and fossorial locomotor types correlate with differential expansion of the neocortex, petrosal lobules, and relative brain size.

Parentage testing is routinely performed by genotyping short tandem repeat (STR) through capillary electrophoresis in the present. However, ambiguous or even misjudged paternity based on STRs happens from time to time in cases where only one putative parent is available. We analyzed STR data of 7,818,969 unrelated pairs and 75 close-relative pairs and found that although the probability of a random false match between non-relatives was 4.22 × 10–6, the incidence of false or ambiguous paternity results between children and first-degree relatives of their true parent was as high as 18.67%. These results highlight the risk of false inclusion of a relative or even non-relatives in parentage testing with STRs. We then validated all ambiguous STR results by targeted sequencing with a custom panel containing 4,830 individual identification single nucleotide polymorphisms (IISNP), found that the ratio of mismatch loci to total SNPs was 1.78–6.95% in close relatives compared with 10.93–13.49% in unrelated pairs. Last, we reported three real cases with undetermined paternity by STRs and rectified them by dissecting with our IISNP panel. These results suggested that high-density IISNP panel can be used to identify and rectify misjudged cases effectively.

Summary The proportion of samples with one or more close relatives in a genetic dataset increases rapidly with sample size, necessitating relatedness modeling and enabling pedigree-based analyses. Despite this, relatives are generally unreported and current inference methods typically detect only the degree of relatedness of sample pairs and not pedigree relationships. We developed CREST, an accurate and fast method that identifies the pedigree relationships of close relatives. CREST utilizes identity by descent (IBD) segments shared between a pair of samples and their mutual relatives, leveraging the fact that sharing rates among these individuals differ across pedigree configurations. Furthermore, CREST exploits the profound differences in sex-specific genetic maps to classify pairs as maternally or paternally related—e.g., paternal half-siblings—using the locations of autosomal IBD segments shared between the pair. In simulated data, CREST correctly classifies 91.5%–100% of grandparent-grandchild (GP) pairs, 80.0%–97.5% of avuncular (AV) pairs, and 75.5%–98.5% of half-siblings (HS) pairs compared to PADRE’s rates of 38.5%–76.0% of GP, 60.5%–92.0% of AV, 73.0%–95.0% of HS pairs. Turning to the real 20,032 sample Generation Scotland (GS) dataset, CREST identified seven pedigrees with incorrect relationship types or maternal/paternal parent sexes, five of which we confirmed as mistakes, and two with uncertain relationships. After correcting these, CREST correctly determines relationship types for 93.5% of GP, 97.7% of AV, and 92.2% of HS pairs that have sufficient mutual relative data; the parent sex in 100% of HS and 99.6% of GP pairs; and it completes this analysis in 2.8 h including IBD detection in eight threads.

Background There is a dearth of studies assessing non-communicable disease (NCD) mortality within population-based settings in Uganda. We assessed mortality due to major NCDs among persons ≥ 30 years in Eastern Uganda from 2010 to 2016. Methods The study was carried out at the Iganga-Mayuge health and demographic surveillance site in the Iganga and Mayuge districts of Eastern Uganda. Information on cause of death was obtained through verbal autopsies using a structured questionnaire to conduct face-face interviews with carers or close relatives of the deceased. Physicians assigned likely cause of death using ICD-10 codes. Age-adjusted mortality rates were calculated using direct method, with the average population across the seven years of the study (2010 to 2016) as the standard. Age categories of 30–40, 41–50, 51–60, 61–70, and ≥ 71 years were used for standardization. Results A total of 1,210 deaths among persons ≥ 30 years old were reported from 2010 to 2016 (50.7% among women). Approximately 53% of all deaths were due to non-communicable diseases, 31.8% due to communicable diseases, 8.2% due to injuries, and 7% due to maternal-related deaths or undetermined causes. Cardiovascular diseases accounted for the largest proportion of NCD deaths in each year, and women had substantially higher cardiovascular disease mortality rates compared to men. Conversely, women had lower diabetes mortality rates than men for five of the seven years examined. Conclusions Non-communicable diseases are major causes of death among adults in Iganga and Mayuge; and cardiovascular diseases and diabetes are leading causes of NCD deaths. Efforts are needed to tackle NCD risk factors and provide NCD care to reduce associated burden and premature mortality.

Suicide in older persons is a serious issue in many countries. The act of intentionally causing one's own death is often associated with lack of social support, thwarted belongingness, or chronic interpersonal difficulties. Therefore, suicide has a significant interpersonal dimension that can influence those left behind. However, studies that have investigated the impact of older adults' suicide on their family are scarce. The objective of this pilot study was to assess the feasibility of a qualitative research on the psychosocial experience of adults bereaved by the suicide of an elderly relative. This research could recruit three participants (daughter, grand-son, and grand-niece) who had lost to suicide a close family member aged between 75 and 90. The analysis of the content of the semi-structured interviews revealed seven main themes: (1) finding an explanation to the suicide, (2) give meaning to the loss, (3) the emotional processes of mourning, (4) the repercussions of the suicide on the individual and the family, (5) looking for support, (6) the taboo and secrecy of suicide, and (7) perceptions of aging and the end of life. To explain the suicide of their loved one, the bereaved mentioned various factors related to aging, such as loss of autonomy, illness, and fear of placement. Although the older relative was perceived to be approaching death because of his/her age, the suicide was still unexpected and shocking and led to various emotions (shock, anger, and guilt) and to family conflicts. Suicide remains a taboo subject, but the newly legalized medical assistance in dying is seen as a potential solution to suffering in old age. Further investigation is clearly needed on this topic and this pilot study indicates that the main difficulties will lie in the choice of selection criteria for participants and in the recruitment process.

Objectives The origin and differentiation of Austronesian populations and their languages have long fascinated linguists, archeologists, and geneticists. However, the founding process of Austronesians and when they separated from their close relatives, such as the Daic and Austro-Asiatic populations in the mainland of Asia, remain unclear. In this study, we explored the paternal origin of Malays in Southeast Asia and the early differentiation of Austronesians. Materials and methods We generated whole Y-chromosome sequences of 50 Malays and co-analyzed 200 sequences from other Austronesians and related populations. We generated a revised phylogenetic tree with time estimation. Results We identified six founding paternal lineages among the studied Malays samples. These founding lineages showed a surprisingly coincident expansion age at 5000 to 6000 years ago. We also found numerous mostly close related samples of the founding lineages of Malays among populations from Mainland of Asia. Conclusion Our analyses provided a refined phylogenetic resolution for the dominant paternal lineages of Austronesians found by previous studies. We suggested that the co-expansion of numerous founding paternal lineages corresponds to the initial differentiation of the most recent common ancestor of modern Austronesians. The splitting time and divergence pattern in perspective of paternal Y-chromosome evidence are highly consistent with the previous theories of ethnologists, linguists, and archeologists.

One of the central but yet unresolved problems in evolutionary biology concerns the origin of novel complex traits. One hypothesis is that complex traits derive from pre-existing gene regulatory networks (GRNs) reused and modified to specify a novel trait somewhere else in the body. This simple explanation encounters problems when the novel trait that emerges in a body is in a region that is known to harbor a latent or repressed trait that has been silent for millions of years. Is the novel trait merely a re-emerged de-repressed trait or a truly novel trait that emerged via a novel deployment of an old GRN? A couple of new studies sided on opposite sides of this question when investigating the origin of horns in dung beetles and helmets in treehoppers that develop in the first thoracic segment (T1) of their bodies, a segment known to harbor a pair of repressed/modified wings in close relatives. Here, I point to some key limitations of the experimental approaches used and highlight additional experiments that could be done in future to resolve the developmental origin of these and other traits.

Phylogenetic relationships among extinct hominoids (apes and humans) are controversial due to pervasive homoplasy and the incompleteness of the fossil record. The bony labyrinth might contribute to this debate, as it displays strong phylogenetic signal among other mammals. However, the potential of the vestibular apparatus for phylogenetic reconstruction among fossil apes remains understudied. Here we test and quantify the phylogenetic signal embedded in the vestibular morphology of extant anthropoids (monkeys, apes and humans) and two extinct apes (Oreopithecus and Australopithecus) as captured by a deformation-based 3D geometric morphometric analysis. We also reconstruct the ancestral morphology of various hominoid clades based on phylogenetically-informed maximum likelihood methods. Besides revealing strong phylogenetic signal in the vestibule and enabling the proposal of potential synapomorphies for various hominoid clades, our results confirm the relevance of vestibular morphology for addressing the controversial phylogenetic relationships of fossil apes., eLife digest Humans, gorillas, chimpanzees, orangutans and gibbons all belong to a group known as the hominoids. This ‘superfamily’ also includes the immediate ancestors and close relatives of these species, however in many instances the evolutionary relationships between these extinct ape species remain controversial. While DNA can help evolutionary biologists to work out how living species are related to one another, fossils are typically the principle source of information for extinct species. Inferring evolutionary relationships from fossils must be done with caution, but the bony cavity that houses the inner ear – which is involved in balance and hearing and fairly common in the fossil record – has proven useful for tracing the evolution of certain groups of mammals. However, no one had previously looked to see if this structure could give insights into the evolutionary relatedness among living and extinct hominoids. Urciuoli et al. have now used a 3D imaging technique to capture the complex shapes of the inner ear cavities of 27 species of monkeys and apes, including humans and two extinct apes (Oreopithecus and Australopithecus). The results confirmed that the shape of these structures most closely reflected the evolutionary relationships between the species and not, for example, how the animals moved. Urciuoli et al. went on to identify features of these bony chambers that were shared within several hominoid groups, and to estimate what the inner ears of the ancestors of these groups might have looked like. The results for Australopithecus, for example, were consistent with it being most closely related to modern humans than other apes, while those for the enigmatic Oreopithecus supported the view that it was a much older species of ape that converged in some respects with other apes still alive today. The findings highlight the potential of the inner ear for reconstructing the early branches of our family tree. They also offer the prospect of refining the controversial evolutionary relationships within the impressive diversity of extinct ape species.

Myiasis refers to the infestation of living humans and vertebrates with fly larvae that feed on necrotic or vital tissue of the host. Since the invasion of new fly species in Europe is currently being observed, which live obligatorily parasitically or are close relatives of such species, the aim of this study is to obtain a global overview of the distribution of myiasis-causing fly species in times of climate change and to assess the possible consequences for Western Europe. A systematic literature search was conducted using Pubmed/Medline for the years 1997 to 2017 and a total of 464 international case reports from 79 countries were evaluated. The described cases were caused by 41 different species. In 99.4% of the cases, it was a colonization by just one species, a maximum of three species were detected in a human. Casuistics from Western Europe mostly describe myiasis as a "holiday souvenir" from tropical regions. Reports of autochthonous cases are rare in comparison to other regions. With regard to rising temperatures and the invasion of new fly species, a noticeable increase in the number of cases in Western Europe is to be assumed, which could be an increasing problem in the clinical area and in care, which is why thorough monitoring for professional identification and treatment seems important in the future.

Inbreeding depression is dependent on the ploidy of populations and can inhibit the evolution of selfing. While polyploids should generally harbor less inbreeding depression than diploids at equilibrium, it has been unclear whether this pattern holds in non-equilibrium conditions following bottlenecks. We use stochastic individual-based simulations to determine the effects of population bottlenecks on inbreeding depression in diploids and autotetraploids, in addition to cases where neo-autotetraploids form from the union of unreduced gametes. With a ploidy-independent dominance function based on enzyme kinetics, inbreeding depression is generally lower in autotetraploids for fully and partially recessive mutations. Due to the sampling of more chromosomes during reproduction, bottlenecks generally reduce inbreeding depression to a lesser extent in autotetraploids. All else being equal, population bottlenecks may have ploidy-dependent effects for another reason-in some cases matings between close relatives temporarily increase inbreeding depression in autotetraploids by increasing the frequency of the heterozygous genotype harboring the most harmful mutations. When neo-autotetraploids are formed by few individuals, inbreeding depression is dramatically reduced, given extensive masking of harmful mutations following whole genome duplication. This effect persists as nascent tetraploids reach mutation-selection-drift balance, providing a transient period of permissive conditions favoring the evolution of selfing.

The kinetoplastida and their close relatives are unicellular organisms prevalent within the biosphere and important for significant impacts on global health, economy and ecosystems. They are, under most models, an early branching lineage. Individual species adapted to highly diverse environments by adopting complex life styles; parasitic species can infect a wide range of eukaryotic hosts, while many relatives are free-living and some autotrophic from acquiring a plastid for photosynthesis. Adaptation is especially evident in the evolution of kinetoplastid cell surface architecture and is supported by endomembrane trafficking and serves as a platform for interaction with its environment. Here we summarize and discuss recent genomic and experimental studies of the protein trafficking system in kinetoplastids, with focus on the composition and function of the surface as well as mechanisms for constructing, maintaining and regulating the cell surface proteome. We hope this provides a broad view of how protein trafficking contributes to the intricate and dynamic host-parasite interfaces that are critical for successful environmental adaptation of this highly important lineage.

As genetic datasets increase in size, the fraction of samples with one or more close relatives grows rapidly, resulting in sets of mutually related individuals. We present DRUID—deep relatedness utilizing identity by descent—a method that works by inferring the identical-by-descent (IBD) sharing profile of an ungenotyped ancestor of a set of close relatives. Using this IBD profile, DRUID infers relatedness between unobserved ancestors and more distant relatives, thereby combining information from multiple samples to remove one or more generations between the deep relationships to be identified. DRUID constructs sets of close relatives by detecting full siblings and also uses an approach to identify the aunts/uncles of two or more siblings, recovering 92.2% of real aunts/uncles with zero false positives. In real and simulated data, DRUID correctly infers up to 10.5% more relatives than PADRE when using data from two sets of distantly related siblings, and 10.7%–31.3% more relatives given two sets of siblings and their aunts/uncles. DRUID frequently infers relationships either correctly or within one degree of the truth, with PADRE classifying 43.3%–58.3% of tenth degree relatives in this way compared to 79.6%–96.7% using DRUID.

Background The number of malformations attributed to mutations with autosomal or X-linked patterns of inheritance has increased steadily since the cataloging began in the 1960s. These diagnoses have been based primarily on the pattern of phenotypic features among close relatives. A malformations surveillance program conducted in consecutive pregnancies can identify both known and "new" hereditary disorders. Methods The Active Malformations Surveillance Program was carried out among 289,365 births over 41 years (1972-2012) at Brigham and Women's Hospital in Boston. The findings recorded by examining pediatricians and all consultants were reviewed by study clinicians to establish the most likely diagnoses. The findings in laboratory testing in the newborn period were reviewed, as well. Results One hundred ninety-six (0.06%) infants among 289,365 births had a malformation or malformation syndrome that was attributed to Mendelian inheritance. A total of 133 (68%) of the hereditary malformations were attributed to autosomal dominant inheritance, with 94 (71%) attributed to apparent spontaneous mutations. Forty-six (23%) were attributed to mutations with autosomal recessive inheritance, 17 associated with consanguinity. Seventeen (9%) were attributed to X-linked inheritance. Fifteen novel familial phenotypes were identified. The family histories showed that most (53 to 71%) of the affected infants were born, as a surprise, to healthy, unaffected parents. Conclusion It is important for clinicians to discuss with surprised healthy parents how they can have an infant with an hereditary condition. Future studies, using DNA samples from consecutive populations of infants with malformations and whole genome sequencing, will identify many more mutations in loci associated with mendelizing phenotypes. Birth Defects Research 110:92-97, 2018.© 2018 Wiley Periodicals, Inc.

Considering the need for observing health protocols, the experience of the loss and the grieving process has changed in nature during this disease. Therefore, this study aims to gain a deep understanding of the experience of mourning during COVID-19 pandemic by exploring the experiences of survivors of the death of their loved. During COVID-19 pandemic, the inability to hold the usual ceremonies for mourning and receive the social support needed in this period, the relatives of the deceased encounter various conditions that disrupt the grieving process and may lead to the spread of unresolved grief in future.

BACKGROUND: Researchers are obligated to do no harm to participants of research. Conflicts in relationships can cause negative well-being; therefore, insight is needed into the particular ethical considerations that arise when conducting joint interviews with close relatives or family members simultaneously in the healthcare setting.AIM: To collect and share knowledge related to ethical considerations conducting joint interviews.DESIGN AND METHODS: A literature review inspired by the integrative review method was performed. Data were retrieved through a structured search in PubMed, CINAHL and the Philosopher's Index and Academic Search Premier for articles published in English from 1980 to 2016 and included 18 articles, of a possible 2153. Article content was assessed line-by-line, and ethical considerations were extracted and organized in three subgroups regarding: Planning joint interviews; Conduction joint interviews and Reporting on joint interviews Findings: Participants should be offered the best terms for a constructive, on-going relationship after the joint interview has ended. This obligates the researcher to ensure a safe environment during the joint interview and create a delicate balance between the needs of the participants, using nonconfrontational techniques that foster equal and neutral but dedicated attention to all parties, before, during and after the joint interviews.CONCLUSION: Specific ethical considerations should be taken into account before, during and after joint interviewing. Further research is needed before a final conclusion can be drawn.

Thomas Heuyer,1 Sonia Pavan,2 Christine Vicard1 1Maladies Rares Info Services, 2SPScienceCom, Paris, France Purpose: A barometer has been set up to provide better knowledge about the daily situation of French rare disease (RD) patients, their families and relatives, in order to contribute to the elaboration of improvement measures. This report focuses on the care and life path of RD patients.Patients and methods: A preliminary survey was carried out with three patients, five parents and three RD experts to identify the main hurdles and disruptions in the life path of RD patients. It was used to design a larger survey comprising 60 questions as well as open fields allowing free expression. Respondents (448) comprised patients, parents of RD children and close relatives of patients. The Percentage of Maximum Deviation, Yates’ correction for continuity and Fisher’s test were employed to compare the responses between groups.Results: Large disparities in the delays to obtain a diagnosis were identified (20 years), and longer delays were associated with negative perception of care conditions. While good interactions with education teams were reported (59% of respondents), the professional situation of both patients and parents was strongly and negatively impacted by the disease (51% did not work or stopped working). Three hundred respondents expressed various needs and psychological and personal issues were reported by 62% and 75% of respondents, respectively. Interestingly, the medical care path and daily life of RD patients were positively impacted by the follow-up in a specialized consultation, as reflected by changes in scores measured by our barometer (Fisher’s test, p

Background: Close relatives of people with severe mental illness (SMI) experience problems known as family burdens. In addition, they may have their own needs for support, something often overlooked by the healthcare system. Meta-syntheses in this area may help explore the meaning of the experience of living with someone who has a SMI.Aim: Our aim was to describe the burdens experienced and needs perceived on a daily basis by relatives to someone who has a SMI.Methods: The databases PubMed, CINAHL, and PsychInfo were searched using a systematic search strategy. Studies were screened for relevance and quality was appraised. A meta-synthesis of nine qualitative studies was then conducted.Results: The nine studies discerned the following themes. Burden themes; Forced to carry a sometimes unbearable burden; Burdened by own ill-health and disrupted relationships; Distressed and stigmatized by society. Needs themes; strengthening protective factors; Skills and practical support greatly appreciated.Conclusions: The burdens and needs of relatives of persons with SMI strongly influence their lives. They require relief from both practical and emotional burdens. Family interventions and other programs to support relatives should be encouraged with this knowledge in mind.

Khalifa E Sharquie,1 Husam Ali Salman,1 Aseel K Yaseen2 1Department of Dermatology and Venereology, College of Medicine, University of Baghdad, Baghdad, Iraq, 2Department of Dermatology and Venereology, Baghdad Teaching Hospital, Baghdad, Iraq Background: Both vitiligo and psoriasis are chronic inflammatory autoimmune diseases with genetic elements. Objective: To estimate the frequencies of psoriasis in vitiligo patients and vice versa and to compare them with healthy controls. Patients and methods: A total of 1000 subjects were included, 250 of them had vitiligo, 250 had psoriasis, and 500 were healthy controls. Measurement of the frequencies of vitiligo in psoriatic patients and psoriasis in vitiligo patients was carried out. Thereafter the frequencies of both diseases were assessed in healthy controls. The frequency of vitiligo among psoriatic patients was compared with that of vitiligo in healthy controls. A similar comparison was done between the frequency of psoriasis among vitiligo patients with that in healthy controls. Other comparisons were performed between the frequency of family history of psoriasis among vitiligo patients with that in healthy controls and between the frequency of family history of vitiligo in psoriatic patients with that in healthy controls. Results: The frequency of psoriasis among vitiligo patients was 15 (6%) and among healthy controls was 2 (0.4%); there is a statistically significant difference (P=0.001). The frequency of vitiligo among psoriatic patients was 5 (2%) and among healthy controls was 3 (0.6%); no statistically significant difference was found (P=0.16). The family history of psoriasis among vitiligo patients was 23 (9.2%) and among healthy controls was 20 (4%); there is a significant association (P=0.043). The family history of vitiligo among psoriatic patients was 24 (9.6%)and among healthy controls was 40 (8%); the difference is statistically significant (P=0.042). Conclusion: The present work has confirmed the close relationship between vitiligo and psoriasis. Keywords: psoriasis, vitiligo, overlap, relationship

In this review, we outline the history of our current understanding of the organization of the pulvinar complex of mammals. We include more recent evidence from our own studies of both New and Old World monkeys, prosimian galagos, and close relatives of primates, including tree shrews and rodents. Based on cumulative evidence, we provide insights into the possible evolution of the visual pulvinar complex, as well as the possible co-evolution of the inferior pulvinar nuclei and temporal cortical visual areas within the MT complex.

The close relatives who buried the Anzick infant ca. 12,800 cal BP made classic Clovis tools and were unequivocally the lineal genetic ancestors of all the living Native peoples of southern North America, Central America, and South America. Clovis-derived Fell I fishtail points track the rapid southward migration of this ancestral population all the way to Tierra del Fuego. Any hypothesized earlier populations, if they (improbably) ever existed, must have been replaced or genetically swamped by these Clovis descendants.

Killifishes survive and persist in extreme environments by exploiting both aquatic and terrestrial habitats for egg deposition, and by adjusting the length of development to match availability of water to support larval growth and maturation. Annual killifishes persist in ephemeral bodies of water through the production of drought-tolerant embryos. Survival of the environmental stresses associated with their highly variable and seasonal habitat is supported by their ability to enter into at least two states of metabolic and developmental dormancy, diapause or quiescence. There are three stages of diapause in annual killifishes, one occurring prior to gastrulation, one about midway through development, and one in late pre-hatching embryos. Quiescence may occur at any developmental stage. In addition, delayed hatching is known to occur in close relatives of the annual killifishes, and may be superficially confused with pre-hatching diapause. These types of developmental delay are induced by different cues and serve different purposes in the life history of the species. Thus, it is likely that the molecular mechanisms that induce dormancy and support survival are unique in each case. It is imperative that we properly define these forms of developmental dormancy in our studies in order to put our results into the proper ecological and evolutionary context. Here the unique characteristics of these distinct categories of developmental delay are reviewed. Developmental Dynamics 246:858-866, 2017. © 2017 The Authors Developmental Dynamics published by Wiley Periodicals, Inc. on behalf of American Association of Anatomists.

There is a dearth of articles addressing psychoeducational multifamily groups for adults with intellectual disabilities. The objective of this study is to investigate the participants' experiences of being part of a group like this. The group intervention had been slightly modified due to the participants' intellectual disabilities. Four patients, their close relatives, and community professional caregivers were interviewed using a semi-structured scheme. The four patients had participated in different groups. Three of them had autism spectrum disorder in addition to intellectual disabilities and mental illness. None of the patients were in the most acute phase during the group intervention. Topics discussed in the group sessions encompassed friendship, personal economy, hygiene, understanding of mental illness, and the need for help. A basic meal was served at every group meeting. The experiences were favorable.

During early embryogenesis in animals, cells are arranged into a species-specific pattern in a robust manner. Diverse cell arrangement patterns are observed, even among close relatives. In the present study, we evaluated the mechanisms by which the diversity and robustness of cell arrangements are achieved in developing embryos. We successfully reproduced various patterns of cell arrangements observed in various nematode species in Caenorhabditis elegans embryos by altering the eggshell shapes. The findings suggest that the observed diversity of cell arrangements can be explained by differences in the eggshell shape. Additionally, we found that the cell arrangement was robust against eggshell deformation. Computational modeling revealed that, in addition to repulsive forces, attractive forces are sufficient to achieve such robustness. The present model is also capable of simulating the effect of changing cell division orientation. Genetic perturbation experiments demonstrated that attractive forces derived from cell adhesion are necessary for the robustness. The proposed model accounts for both diversity and robustness of cell arrangements, and contributes to our understanding of how the diversity and robustness of cell arrangements are achieved in developing embryos., Summary: The cell arrangement pattern at the four-cell stage in nematode embryos is both diverse and robust. A numerical model that incorporates attractive, as well as repulsive, forces was constructed to explain this diversity and robustness.

We read with great interest the article of Milette and colleagues, which provides valuable insights in the interaction between patients with systemic sclerosis (SSc) and close relatives, from a pat...

The proportion of samples with one or more close relatives in a genetic dataset increases rapidly with sample size, necessitating relatedness modeling and enabling pedigree-based analyses. Despite this, relatives are generally unreported and current inference methods typically detect only the degree of relatedness of sample pairs and not pedigree relationships. We developed CREST, an accurate and fast method that identifies the pedigree relationships of close relatives. CREST utilizes identical by descent (IBD) segments shared between a pair of samples and their mutual relatives, leveraging the fact that sharing rates among these individuals differ across pedigree configurations. Furthermore, CREST exploits the profound differences in sex-specific genetic maps to classify pairs as maternally or paternally related—e.g., paternal half-siblings—using the locations of autosomal IBD segments shared between the pair. In simulated data, CREST correctly classifies 91.5-99.5% of grandparent-grandchild (GP) pairs, 70.5-97.0% of avuncular (AV) pairs, and 79.0-98.0% of half-siblings (HS) pairs compared to PADRE’s rates of 38.5-76.0% of GP, 60.5-92.0% of AV, 73.0-95.0% of HS pairs. Turning to the real 20,032 sample Generation Scotland (GS) dataset, CREST correctly determines the relationship of 99.0% of GP, 85.7% of AV, and 95.0% of HS pairs that have sufficient mutual relative data, completing this analysis in 10.1 CPU hours including IBD detection. CREST’s maternal and paternal relationship inference is also accurate, as it flagged five pairs as incorrectly labeled in the GS pedigrees— three of which we confirmed as mistakes, and two with an uncertain relationship—yielding 99.7% of HS and 93.5% of GP pairs correctly classified.

Students have become more familiar with cancer because of media, such as television or the Internet, reporting on celebrity cancer cases. Moreover, with Japan's increasing age and cancer rates, the number of students whose parents/relatives develop cancer is likely to increase. This study examined cancer awareness and understanding among students aged 10 to 16 or more. A cross-sectional nationwide survey was conducted using a self-administered questionnaire. Cancer awareness and cancer understanding were assessed using a self-administered questionnaire. We collected a total of 9139 questionnaires and excluded those with missing data. Thus, we analyzed the responses of 8701 students: 2135, 2902, and 3664 from elementary, junior, and high school, respectively. Data were analyzed using a multivariable model adjusted for gender and grade. Approximately 30% of respondents had parents/relatives with cancer. In addition, there was a significant association between having parents/relatives with cancer and cancer awareness; however, students having parents/relatives with cancer had more negative awareness (i.e., "I think cancer is scary," "I think I will get cancer in the future," and "I think cancer is preventable"). Furthermore, there was a significant association between cancer understanding and awareness. These findings suggest that cancer education could have a desirable effect on students whose parents/relatives have cancer. Further, cancer education offers benefits to students who are naive about cancer and ill prepared to cope when a family member discloses a cancer diagnosis.

The most enigmatic aspect of the rise of Candida auris as a human pathogen is that it emerged simultaneously on three continents, with each clade being genetically distinct. Although new pathogenic fungal species are described regularly, these are mostly species associated with single cases in individuals who are immunosuppressed.The most enigmatic aspect of the rise of Candida auris as a human pathogen is that it emerged simultaneously on three continents, with each clade being genetically distinct. Although new pathogenic fungal species are described regularly, these are mostly species associated with single cases in individuals who are immunosuppressed. In this study, we used phylogenetic analysis to compare the temperature susceptibility of C. auris with those of its close relatives and to use these results to argue that it may be the first example of a new fungal disease emerging from climate change, with the caveat that many other factors may have contributed.

The phylum Apicomplexa (Alveolates) comprises a group of host-associated protists, predominately intracellular parasites, including devastating parasites like Plasmodium falciparum, the causative agent of malaria. One of the more fascinating characteristics of Apicomplexa is their highly reduced (and occasionally lost) remnant plastid, termed the apicoplast. Four core metabolic pathways are retained in the apicoplast: heme synthesis, iron–sulfur cluster synthesis, isoprenoid synthesis, and fatty acid synthesis. It has been suggested that one or more of these pathways are essential for plastid and plastid genome retention. The past decade has witnessed the discovery of several apicomplexan relatives, and next-generation sequencing efforts are revealing that they retain variable plastid metabolic capacities. These data are providing clues about the core genes and pathways of reduced plastids, while at the same time further confounding our view on the evolutionary history of the apicoplast. Here, we examine the evolutionary history of the apicoplast, explore plastid metabolism in Apicomplexa and their close relatives, and propose that the differences among reduced plastids result from a game of endosymbiotic roulette. Continued exploration of the Apicomplexa and their relatives is sure to provide new insights into the evolution of the apicoplast and apicomplexans as a whole.

Photosystem I (PSI) were reported as trimeric complexes in most characterized cyanobacteria, yet monomers in plants and algae PSI. Recent reports on tetrameric PSI raised questions regarding its structural basis, physiological role, phylogenetic distribution and evolutionary significance. In this study, by examining PSI in 61 cyanobacteria, we show that tetrameric PSI, correlating with a uniquepsaLgene and genomic structure, is widespread in the heterocyst-forming cyanobacteria and their close relatives. Physiological studies on these cyanobacteria revealed that tetrameric PSI is favored under high light, with an increased content of novel PSI-bound carotenoids (myxoxanthophyll, canthaxanthan and echinenone). Together this work suggests that tetrameric PSI is an adaptation to high light, along with results showing that change in PsaL leads to trimeric PSI monomerization, supporting the hypothesis of tetrameric PSI being the evolutionary intermediate in the transition from cyanobacterial trimeric PSI to monomeric PSI in plants and algae.

Introduction The genetic architecture of Alzheimer's disease (AD) is only partially understood. Methods We conducted an association study for AD using whole sequence data from 507 genetically enriched AD cases (i.e., cases having close relatives affected by AD) and 4917 cognitively healthy controls of European ancestry (EA) and 172 enriched cases and 179 controls of Caribbean Hispanic ancestry. Confirmation of top findings from stage 1 was sought in two family-based genome-wide association study data sets and in a whole genome–sequencing data set comprising members from 42 EA and 115 Caribbean Hispanic families. Results We identified associations in EAs with variants in 12 novel loci. The most robust finding is a rare CASP7 missense variant (rs116437863; P = 2.44 × 10−10) which improved when combined with results from stage 2 data sets (P = 1.92 × 10−10). Discussion Our study demonstrated that an enriched case design can strengthen genetic signals, thus allowing detection of associations that would otherwise be missed in a traditional case-control study.

The Late Jurassic ‘Solnhofen Limestones’ are famous for their exceptionally preserved fossils, including the urvogel Archaeopteryx, which has played a pivotal role in the discussion of bird origins. Here we describe a new, non-archaeopterygid avialan from the Lower Tithonian Mörnsheim Formation of the Solnhofen Archipelago, Alcmonavis poeschli gen. et sp. nov. Represented by a right wing, Alcmonavis shows several derived characters, including a pronounced attachment for the pectoralis muscle, a pronounced tuberculum bicipitale radii, and a robust second manual digit, indicating that it is a more derived avialan than Archaeopteryx. Several modifications, especially in muscle attachments of muscles that in modern birds are related to the downstroke of the wing, indicate an increased adaptation of the forelimb for active flapping flight in the early evolution of birds. This discovery indicates higher avialan diversity in the Late Jurassic than previously recognized., eLife digest The origin of birds and their flight has been heavily debated in the field of evolutionary biology since the late nineteenth century. Birds are the only living descendants of dinosaurs and, for paleontologists, the famous Archaeopteryx has played a pivotal role in this discussion. Living during the Jurassic period about 150 million years ago in what is now southern Germany, Archaeopteryx is generally accepted as the oldest known flying bird. Yet, with the discovery of other bird-like dinosaurs from the same period, a question has arisen as to whether Archaeopteryx is the only flying bird from the Jurassic. To answer this question, Rauhut et al. carefully examined a fossil of an isolated wing skeleton that was recently discovered in the same region of Germany where Archaeopteryx was found. The new specimen shows several characteristics that are otherwise only found in modern birds and not seen in Archaeopteryx. As such, this fossil represents a new species and the most bird-like bird discovered from the Jurassic. Rauhut et al. named the species Alcmonavis poeschli, after the ancient name for a river that flows near the discovery site, the Greek word for bird, and Roland Pöschl – the collector who found the specimen. The wing of Alcmonavis also shows several features related to the attachment of flight muscles that suggest it was better adapted for flapping flight than Archaeopteryx. Together these findings are mostly consistent with the hypothesis that birds first started flying by flapping their wings rather than starting from a gliding stage. However, more detailed studies of the anatomy of primitive birds and their close relatives are needed to further test this hypothesis.

Although ecological networks are usually considered a static representation of species’ interactions, the interactions can change when the preferred partners are absent (rewiring). In mutualistic networks, rewiring with non-preferred partners can palliate extinction cascades, contributing to communities’ stability. In spite of its significance, whether general patterns can shape the rewiring of ecological interactions remains poorly understood. Here, we show a phylogenetic constraint in the rewiring of mycorrhizal networks, so that rewired interactions (i.e., with non-preferred hosts) tend to involve close relatives of preferred hosts. Despite this constraint, rewiring increases the robustness of the fungal community to the simulated loss of their host species. We identify preferred and non-preferred hosts based on the probability that, when the two partners co-occur, they actually interact. Understanding general patterns in the rewiring of interactions can improve our predictions of community responses to interactions’ loss, which influences how global changes will affect ecosystem stability., Financial support was provided by the Spanish National Research Program for Development and Innovation CGL2013-42312-R / BOS. AMN was supported by a postdoctoral contract from the Spanish Ministry of Economy and Competitiveness (FPDI-2013-16266; IJCI‐ 2015‐23498).

Resumen El objetivo de la presente investigacion fue describir las creencias y costumbres de madres y parteras para la atencion del embarazo, parto y puerperio en el distrito de Huancas (provincia de Chachapoyas, Peru). Se empleo el metodo cualitativo, con muestreo en cadena. Como instrumento se uso la entrevista en profundidad aplicada a 24 madres y 6 parteras, de manera individual y en grupos focales, entre junio y octubre del 2014. La informacion brindada por las entrevistadas fue transcrita segun su expresion oral para agruparla en cuatro categorias: (i) senales y peligros durante el embarazo, (ii) cuidados durante el embarazo y parto, (iii) dificultades del parto, y (iv) cuidados durante el puerperio. De las entrevistas y grupos focales, se evidencia que las madres y parteras reconocen senales de peligro durante el embarazo, como dolor de cadera y vientre, sangrado vaginal e hinchamiento. Entre los cuidados durante el embarazo, indican una alimentacion adecuada, el uso de vestimenta holgada. Si tienen problemas que no puede solucionar la partera, recurren al puesto de salud, y ven el embarazo como algo natural que no impide sus actividades diarias a las que estan acostumbradas. El parto, generalmente, es atendido por la partera aplicando las costumbres y creencias de la zona, que incluye la posicion de la gestante para el parto, el empleo de plantas medicinales y el apoyo de familiares cercanos. Los cuidados para la recuperacion de la madre y el cuidado del recien nacido estan a cargo de los propios familiares. Las concepciones y percepciones del embarazo, parto y puerperio en la localidad de Huancas son respetadas por sus pobladores, repercutiendo esto en la salud materno-infantil. Palabras clave: embarazo, parto, puerperio, interculturalidad, Huancas. Abstract The aim of the present investigation was to describe the beliefs and customs of mothers and midwives for the care of pregnancy, delivery and puerperium in the district of Huancas (province of Chachapoyas, Peru). The qualitative method was used, with chain sampling. As instrument, the in-depth interview was applied to 24 mothers and 6 midwives, individually and in focus groups, between June and October 2014. The information provided by the interviewers was transcribed according to their oral expression to be grouped into four categories: (i) signals and dangers during pregnancy, (ii) care during pregnancy and childbirth, (iii) difficulties in childbirth, and (iv) care during the puerperium. From interviews and focus groups, it is evident that mothers and midwives recognize signals of danger during pregnancy, such as hip and belly pain, vaginal bleeding and swelling. Among the cares during pregnancy, they indicate an adequate diet, the use of loose clothing. If they have problems that the midwife cannot solve, they recur to the medical center, and they see pregnancy as something natural that does not impede their daily activities to which they are accustomed. The delivery, generally, is attended by the midwife applying the customs and beliefs of the area, which includes the position of the pregnant woman for the birth, the use of medicinal plants and the support of close relatives. The care for the recovery of the mother and the care of the newborn are in charge of the family members. The conceptions and perceptions of pregnancy, childbirth and puerperium in the town of Huancas are respected by its inhabitants, and have an effect on maternal and child health. Keywords: pregnancy, childbirth, puerperium, interculturality, Huancas.