The detection of meiotic crossovers in crop plants currently relies on scoring DNA markers in a segregating population or cytological visualization. We investigated the feasibility of using flow-sorted haploid nuclei, Phi29 DNA polymerase-based whole-genome-amplification (WGA) and multi-locus KASP-genotyping to measure meiotic crossovers in individual barley pollen grains. To demonstrate the proof of concept, we used 24 gene-based physically mapped single nucleotide polymorphisms to genotype the WGA products of 50 single pollen nuclei.
View Article and Find Full Text PDFBackground: Universal health access will not be achieved unless women are cared for in their own communities and are empowered to take decisions about their own health in a supportive environment. This will only be achieved by community-based demand side interventions for maternal health access. In this review article, we highlight three common strategies to increase demand-side barriers to maternal healthcare access and identify the main challenges that still need to be addressed for these strategies to be effective.
View Article and Find Full Text PDFDiscovered in 1909 by Retzius and described mainly by morphology, the cytoplasmic droplet of sperm (renamed here the Hermes body) is conserved among all mammalian species but largely undefined at the molecular level. Tandem mass spectrometry of the isolated Hermes body from rat epididymal sperm characterized 1511 proteins, 43 of which were localized to the structure in situ by light microscopy and two by quantitative electron microscopy localization. Glucose transporter 3 (GLUT-3) glycolytic enzymes, selected membrane traffic and cytoskeletal proteins were highly abundant and concentrated in the Hermes body.
View Article and Find Full Text PDFBackground: A long-standing epidemiological puzzle is the reduced rate of rheumatoid arthritis (RA) in those with schizophrenia (SZ) and vice versa. Traditional epidemiological approaches to determine if this negative association is underpinned by genetic factors would test for reduced rates of one disorder in relatives of the other, but sufficiently powered data sets are difficult to achieve. The genomics era presents an alternative paradigm for investigating the genetic relationship between two uncommon disorders.
View Article and Find Full Text PDFBackground: Information about treatment protocols, adverse effects and outcomes with intrapleural recombinant tissue plasminogen activator (rTPA) use in horses with fibrinous pleuropneumonia is limited.
Hypothesis/objectives: Describe factors that contribute to clinical response and survival of horses treated with rTPA intrapleurally.
Animals: Horses with bacterial pneumonia and fibrinous pleural effusion diagnosed by ultrasonography, that were treated with rTPA intrapleurally.
Background: The Objective Structured Clinical Examination (OSCE) is an established tool in the repertoire of clinical assessment methods in nurse education. The use of OSCEs facilitates the assessment of psychomotor skills as well as knowledge and attitudes. Identified benefits of OSCE assessment include development of students' confidence in their clinical skills and preparation for clinical practice.
View Article and Find Full Text PDFBackground: Few studies have addressed the challenges associated with international students as they adapt to studying medicine in a new host country. Higher level institutions have increasing numbers of international students commencing programmes. This paper explores the experiences of a cohort of students in the early years of medical school in Ireland, where a considerable cohort are from an international background.
View Article and Find Full Text PDFColonization by Lactobacillus in the female genital tract is thought to be critical for maintaining genital health. However, little is known about how genital microbiota influence host immune function and modulate disease susceptibility. We studied a cohort of asymptomatic young South African women and found that the majority of participants had genital communities with low Lactobacillus abundance and high ecological diversity.
View Article and Find Full Text PDFAn association between lower educational attainment (EA) and an increased risk for depression has been confirmed in various western countries. This study examines whether pleiotropic genetic effects contribute to this association. Therefore, data were analyzed from a total of 9662 major depressive disorder (MDD) cases and 14,949 controls (with no lifetime MDD diagnosis) from the Psychiatric Genomics Consortium with additional Dutch and Estonian data.
View Article and Find Full Text PDFThe molecular basis of changes in structure, cellular location, and function of the Golgi apparatus during male germ cell differentiation is unknown. To deduce cognate Golgi proteins, we isolated germ cell Golgi fractions, and 1318 proteins were characterized, with 20 localized in situ. The most abundant protein, GL54D of unknown function, is characterized as a germ cell-specific Golgi-localized type II integral membrane glycoprotein.
View Article and Find Full Text PDFPrinciples: Human immunodeficiency virus (HIV) related self-stigma--negative self-judgements resulting in shame, worthlessness and self-blame - negatively influences access to care and treatment, and overall quality of life for people living with HIV (PLHIV). Despite evidence that high levels of self-stigma exist among PLHIV, and is experienced to a far greater extent than stigma received from the broader community, there is a paucity of research aimed at understanding causes and functions of self-stigma, and an absence of interventions to mitigate its harmful effects. Understanding the core beliefs underlying self-stigma is therefore essential.
View Article and Find Full Text PDFThe use of eponyms is controversial. A distinction must be made between those doctors and scientists after whom disorders and syndromes are named in honour of their discoveries, and those whose discoveries were made as a result of maltreatment of defenceless prisoners, utilizing specimens from victims of Nazi extermination policies, and euthanasia victims of racial policies. The second group of scientists should have their names expunged from the historical record, and their deeds brought to the attention of their colleagues.
View Article and Find Full Text PDFObjective: To test common genetic variants for association with seasonality (seasonal changes in mood and behavior) and to investigate whether there are shared genetic risk factors between psychiatric disorders and seasonality.
Method: Genome-wide association studies (GWASs) were conducted in Australian (between 1988 and 1990 and between 2010 and 2013) and Amish (between May 2010 and December 2011) samples in whom the Seasonal Pattern Assessment Questionnaire (SPAQ) had been administered, and the results were meta-analyzed in a total sample of 4,156 individuals. Genetic risk scores based on results from prior large GWAS studies of bipolar disorder, major depressive disorder (MDD), and schizophrenia were calculated to test for overlap in risk between psychiatric disorders and seasonality.
Usual sleep duration is a heritable trait correlated with psychiatric morbidity, cardiometabolic disease and mortality, although little is known about the genetic variants influencing this trait. A genome-wide association study (GWAS) of usual sleep duration was conducted using 18 population-based cohorts totaling 47 180 individuals of European ancestry. Genome-wide significant association was identified at two loci.
View Article and Find Full Text PDFCytokines and vitamin D both have a role in modulating the immune system, and are also potentially useful biomarkers in mental illnesses such as major depressive disorder (MDD) and schizophrenia. Studying the variability of cytokines and vitamin D in a healthy population sample may add to understanding the association between these biomarkers and mental illness. To assess genetic and environmental contributions to variation in circulating levels of cytokines and vitamin D (25-hydroxy vitamin D: 25(OH)D3), we analyzed data from a healthy adolescent twin cohort (mean age 16.
View Article and Find Full Text PDFMol Psychiatry
May 2015
Coffee, a major dietary source of caffeine, is among the most widely consumed beverages in the world and has received considerable attention regarding health risks and benefits. We conducted a genome-wide (GW) meta-analysis of predominately regular-type coffee consumption (cups per day) among up to 91,462 coffee consumers of European ancestry with top single-nucleotide polymorphisms (SNPs) followed-up in ~30 062 and 7964 coffee consumers of European and African-American ancestry, respectively. Studies from both stages were combined in a trans-ethnic meta-analysis.
View Article and Find Full Text PDFAge at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality. Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation, but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear.
View Article and Find Full Text PDFJ Psychosoc Nurs Ment Health Serv
October 2014
The future of psychiatric-mental health nursing depends on the preparation of nurses who will meet the mental health care needs of society. The current article discusses the development of the "Mental Health Ward," a simulated mental health experience that was offered for the first time to undergraduate baccalaureate nursing students at a Midwestern university in the United States. The Mental Health Ward is an innovative simulated hospital environment that includes the use of standardized patients and role play scenarios, resulting in a full mission simulation whereby students learn various psychiatric diagnoses and practice various pertinent skills, including nursing assessments, admission and discharge processes, medication administration, and therapeutic communication.
View Article and Find Full Text PDFThe etiology of major depressive disorder (MDD) is likely to be heterogeneous, but postpartum depression (PPD) is hypothesized to represent a more homogenous subset of MDD. We use genome-wide SNP data to explore this hypothesis. We assembled a total cohort of 1,420 self-report cases of PPD and 9,473 controls with genome-wide genotypes from Australia, The Netherlands, Sweden and the UK.
View Article and Find Full Text PDFBackground: Although genetic variation is believed to contribute to an individual's susceptibility to major depressive disorder, genome-wide association studies have not yet identified associations that could explain the full etiology of the disease. Epigenetics is increasingly believed to play a major role in the development of common clinical phenotypes, including major depressive disorder.
Results: Genome-wide MeDIP-Sequencing was carried out on a total of 50 monozygotic twin pairs from the UK and Australia that are discordant for depression.
Am J Med Genet B Neuropsychiatr Genet
April 2014
Disturbed sleep and disrupted circadian rhythms are a common feature of psychiatric disorders, and many groups have postulated an association between genetic variants in circadian clock genes and psychiatric disorders. Using summary data from the association analyses of the Psychiatric Genomics Consortia (PGC) for schizophrenia, bipolar disorder and major depressive disorder, we evaluated the evidence that common SNPs in genes encoding components of the molecular clock influence risk to psychiatric disorders. Initially, gene-based and SNP P-values were analyzed for 21 core circadian genes.
View Article and Find Full Text PDF