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Intraspecific and habitat-mediated responses to chemical cues play key roles in structuring populations of marine species. We investigated the behaviour of herbivorous-stage juvenile crown-of-thorns sea stars (COTS; Acanthaster sp.) in flow-through choice chambers to determine if chemical cues from their habitat influence movement and their transition to become coral predators. Juveniles at the diet transition stage were exposed to cues from their nursery habitat (coral rubble-crustose coralline algae (CCA)), live coral and adult COTS to determine if waterborne cues influence movement. In response to CCA and coral as sole cues, juveniles moved towards the cue source and when these cues were presented in combination, they exhibited a preference for coral. Juveniles moved away from adult COTS cues. Exposure to food cues (coral, CCA) in the presence of adult cues resulted in variable responses. Our results suggest a feedback mechanism whereby juvenile behaviour is mediated by adult chemical cues. Cues from the adult population may deter juveniles from the switch to corallivory. As outbreaks wane, juveniles released from competition may serve as a proximate source of outbreaks, supporting the juveniles-in-waiting hypothesis. The accumulation of juveniles within the reef infrastructure is an underappreciated potential source of COTS outbreaks that devastate coral reefs.
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Antozoos , Señales (Psicología) , Estrellas de Mar , Animales , Antozoos/fisiología , Estrellas de Mar/fisiología , Arrecifes de Coral , Herbivoria , Ecosistema , Conducta Alimentaria , Rhodophyta/fisiologíaRESUMEN
AIMS: Maternally inherited diabetes and deafness (MIDD) is a rare form of adult-onset diabetes that can be difficult to diagnose due to its variable clinical phenotype. Transfer RNA-derived small fragments are a novel, emerging class of small non-coding RNAs (sncRNAs) that have significant potential as serum biomarkers due to their stress-induced generation, abundance, stability and ease of detection. METHODS: We investigated the levels of tiRNA 5'ValCAC (alone and in combination with miR-23b-3p) identified from small RNA sequencing studies in serum samples from healthy controls, type 1 diabetes, type 2 diabetes and MIDD subjects. RESULTS: Serum levels of 5'ValCAC were reduced in MIDD and type 2 diabetes subjects compared to controls. Type 2 diabetes subjects had higher serum levels of miR-23b-3p compared to all other subjects. Receiver Operating Characteristic analysis showed the potential of 5'ValCAC and miR-23b-3p as MIDD biomarkers, with the combination showing excellent separation from type 2 diabetes subjects. CONCLUSIONS: This is the first report showing altered serum levels of tiRNAs in diabetes subjects. The combined use of 5'ValCAC and miR-23b-3p as serum biomarkers could potentially differentiate between MIDD subjects and type 2 diabetes subjects.
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Sordera , Diabetes Mellitus Tipo 2 , MicroARNs , Enfermedades Mitocondriales , Adulto , Humanos , Diabetes Mellitus Tipo 2/genética , Biomarcadores , ARN de Transferencia , MicroARNs/genéticaRESUMEN
Water hyacinth is the target of nine biological control agents in South Africa including Neochetina eichhorniae (Warner) and Neochetina bruchi (Hustache) (Coleoptera: Curculionidae). These two weevils have also been released against water hyacinth in Rwanda, but failed to control the weed invasion, possibly due to high turbidity in the country's water bodies. This study therefore aimed to investigate the effect of water turbidity on the establishment and performance of N. eichhorniae in Rwanda. Turbidity levels were measured over two seasons in four Rwandan rivers and two lakes. The results were then used to benchmark laboratory trials to test the effect of turbidity on the weevils' development. Water hyacinth plants were maintained at four turbidity levels: Clear water (2 Nephelometric Turbidity Units (NTU): low (85 NTU), medium (600 NTU) and high (1500 NTU). Each treatment plant was inoculated with three N. eichhorniae larvae, while control plants were free of larvae. Plant growth was measured weekly for three months, while adult weevil emergence was recorded from the 56th day of the experiment. The number of adults emerging from the treatment plants grown in the clear water, low, medium and high turbidity levels were 24, 21, 12 and 0, respectively. Larval feeding was greater on plants growing in clear water and the low turbidity, compared to the medium and high turbidity treatments. These results indicate that N. eichhorniae may not establish or perform well in water bodies with high levels of turbidity, which in turn enhances the growth of water hyacinth, allowing compensatory growth for weevil feeding.
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BACKGROUND: The reliability to non-invasively identify features of inflammatory dermatoses by reflectance confocal microscopy (RCM) remains unknown. Lack of formal training among RCM readers can result in inconsistent assessments, limiting clinical utility. Specific consensus terminology with representative images is necessary to ensure consistent feature-level interpretation among RCM readers. OBJECTIVES: (1) Develop a glossary with representative images of RCM features of cutaneous acute graft-versus-host disease (aGVHD) for consistent interpretation among observers, (2) assess the interobserver reproducibility among RCM readers using the glossary, and (3) determine the concordance between RCM and histopathology for aGVHD features. METHODS: Through an iterative process of refinement and discussion among five international RCM experts, we developed a glossary with representative images of RCM features of aGVHD. From April to November 2018, patients suspected of aGVHD were imaged with RCM and subsequently biopsied. 17 lesions from 12 patients had clinically and pathologically confirmed cutaneous aGVHD. For each of these lesions, four dermatopathologists and four RCM readers independently evaluated the presence of aGVHD features in scanned histopathology slides and 1.5 × 1.5 mm RCM submosaics at 4 depths (blockstacks) respectively. RCM cases were adjudicated by a fifth RCM expert. Interobserver reproducibility was calculated by mean pairwise difference (U statistic). Concordance between modalities was determined by fraction of assignments with agreement. RESULTS: We present a glossary with representative images of 18 aGVHD features by RCM. The average interobserver reproducibility among RCM readers (75%, confidence interval, CI: 71-79%) did not differ significantly from dermatopathologists (80%, 76-85%). The concordance between RCM and histopathology was 59%. CONCLUSIONS: By using the glossary, the interobserver reproducibility among RCM readers was similar to the interobserver reproducibility among dermatopathologists. There was reasonable concordance between RCM and histopathology to visualize aGVHD features. The implementation of RCM can now be advanced in a variety of inflammatory conditions with a validated glossary and representative image set.
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Enfermedad Injerto contra Huésped , Neoplasias Cutáneas , Enfermedad Injerto contra Huésped/diagnóstico por imagen , Humanos , Microscopía Confocal/métodos , Reproducibilidad de los Resultados , Neoplasias Cutáneas/patologíaRESUMEN
BACKGROUND AND AIMS: Hybridization is an important evolutionary process that can have a significant impact on natural plant populations. Eucalyptus species are well known for weak reproductive barriers and extensive hybridization within subgenera, but there is little knowledge of whether patterns of hybridization differ among subgenera. Here, we examine eucalypts of Western Australia's Stirling Range to investigate how patterns of hybridization are associated with landscape and taxon age between the two largest Eucalyptus subgenera: Eucalyptus and Symphyomyrtus. In doing so, we tested a hypothesis of OCBIL (old, climatically buffered, infertile landscape) theory that predicts reduced hybridization on older landscapes. METHODS: Single nucleotide polymorphism markers were applied to confirm the hybrid status, parentage and genetic structure of five suspected hybrid combinations for subg. Eucalyptus and three combinations for subg. Symphyomyrtus. KEY RESULTS: Evidence of hybridization was found in all combinations, and parental taxa were identified for most combinations. The older parental taxa assessed within subg. Eucalyptus, which are widespread on old landscapes, were identified as well-defined genetic entities and all hybrids were exclusively F1 hybrids. In addition, many combinations showed evidence of clonality, suggesting that the large number of hybrids recorded from some combinations is the result of long-term clonal spread following a few hybridization events rather than frequent hybridization. In contrast, the species in subg. Symphyomyrtus, which typically occur on younger landscapes and are more recently evolved, showed less distinction among parental taxa, and where hybridization was detected, there were high levels of introgression. CONCLUSIONS: Reduced hybridization in subg. Eucalyptus relative to extensive hybridization in subg. Symphyomyrtus affirmed the hypothesis of reduced hybridization on OCBILs and demonstrate that clade divergence times, landscape age and clonality are important drivers of differing patterns of speciation and hybridization in Eucalyptus.
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Eucalyptus , Myrtaceae , Evolución Biológica , Hibridación Genética , ReproducciónRESUMEN
Behaviour is central to the management of diabetes, both for people living with diabetes and for healthcare professionals delivering evidence-based care. This review outlines the evolution of behavioural science and the application of theoretical models in diabetes care over the past 25 years. There has been a particular advancement in the development of tools and techniques to support researchers, healthcare professionals and policymakers in taking a theory-based approach, and to enhance the development, reporting and replication of successful interventions. Systematic guidance, theoretical frameworks and lists of behavioural techniques provide the tools to specify target behaviours, identify why ideal behaviours are not implemented, systematically develop theory-based interventions, describe intervention content using shared terminology, and evaluate their effects. Several examples from a range of diabetes-related behaviours (clinic attendance, self-monitoring of blood glucose, retinal screening, setting collaborative goals in diabetes) and populations (people with type 1 and type 2 diabetes, healthcare professionals) illustrate the potential for these approaches to be widely translated into diabetes care. The behavioural science approaches outlined in this review give healthcare professionals, researchers and policymakers the tools to deliver care and design interventions with an evidence-based understanding of behaviour. The challenge for the next 25 years is to refine the tools to increase their use and advocate for the role of theoretical models and behavioural science in the commissioning, funding and delivery of diabetes care.
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Diabetes Mellitus/terapia , Personal de Salud/psicología , Modelos Teóricos , Actitud del Personal de Salud , Ciencias de la Conducta/historia , Ciencias de la Conducta/métodos , Ciencias de la Conducta/tendencias , Atención a la Salud/historia , Atención a la Salud/métodos , Atención a la Salud/tendencias , Diabetes Mellitus/epidemiología , Diabetes Mellitus/historia , Diabetes Mellitus/psicología , Personal de Salud/historia , Personal de Salud/tendencias , Historia del Siglo XX , Historia del Siglo XXI , HumanosRESUMEN
AIMS: To examine the phenotypic features of people identified with ABCC8-maturity-onset diabetes of the young (MODY) who were included in the adult 'Mater MODY' cohort and to establish their response to sulfonylurea therapy. METHODS: Ten participants with activating ABCC8 mutations were phenotyped in detail. A 2-hour oral glucose tolerance test was performed to establish glycaemic tolerance, with glucose, insulin and C-peptide measurements taken at baseline and 30-min intervals. Insulin was discontinued and sulfonylurea therapy initiated after genetic diagnosis of ABCC8-MODY. A blinded continuous glucose monitoring sensor was used to establish glycaemic control on insulin vs a sulfonylurea. RESULTS: The mean age at diagnosis of diabetes was 33.8 ± 11.1 years, with fasting glucose of 18.9 ± 11.5 mmol/l and a mean (range) HbA1c of 86 (51,126) mmol/mol [10.0 (6.8,13.7)%]. Following a genetic diagnosis of ABCC8-MODY three out of four participants discontinued insulin (mean duration 10.6 ± 1.69 years) and started sulfonylurea treatment. The mean (range) HbA1c prior to genetic diagnosis was 52 (43,74) mmol/mol (6.9%) and the post-treatment change was 44 (30,57) mmol/mol (6.2%; P=0.16). Retinopathy was the most common microvascular complication in this cohort, occurring in five out of 10 participants. CONCLUSIONS: Low-dose sulfonylurea therapy resulted in stable glycaemic control and the elimination of hypoglycaemic episodes attributable to insulin therapy. The use of appropriate therapy at the early stages of diabetes may decrease the incidence of complications and reduce the risks of hypoglycaemia associated with insulin therapy.
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Diabetes Mellitus Tipo 2/tratamiento farmacológico , Diabetes Mellitus Tipo 2/genética , Hipoglucemiantes/uso terapéutico , Compuestos de Sulfonilurea/uso terapéutico , Receptores de Sulfonilureas/genética , Adolescente , Adulto , Glucemia/metabolismo , Péptido C/metabolismo , Diabetes Mellitus Tipo 2/metabolismo , Retinopatía Diabética/epidemiología , Retinopatía Diabética/etiología , Sustitución de Medicamentos , Femenino , Genotipo , Prueba de Tolerancia a la Glucosa , Hemoglobina Glucada/metabolismo , Humanos , Hipoglucemia/inducido químicamente , Insulina/uso terapéutico , Masculino , Persona de Mediana Edad , Mutación Missense , Linaje , Fenotipo , Adulto JovenRESUMEN
BACKGROUND: Young adults (18-25 years old) living with type 1 diabetes mellitus often have sub-optimal glycaemic levels which can increase their risk of long term diabetes complications. Informed by health psychology theory and using a (public and patient involvement) young adult-centred approach, we have developed a complex intervention, entitled D1 Now, to improve outcomes in this target group. The D1 Now intervention includes three components; 1) a support-worker, 2) an interactive messaging system and 3) an agenda setting tool for use during clinic consultations. AIMS: The aim of the D1 Now pilot study is to gather and analyse acceptability and feasibility data to allow us to (1) refine the D1 Now intervention, and (2) determine the feasibility of a definitive Randomised Control Trial (RCT) of the intervention. METHODS: Diabetes clinics on the island of Ireland will be recruited and randomised to a D1 Now intervention arm or a usual care control arm. For a participant to be eligible they should be 18-25 years old and living with type 1 diabetes for at least 12 months. Participant outcomes (influenced by a Core Outcome Set) include change in HbA1c, clinic attendance, number of episodes of severe hypoglycaemia and of diabetic ketoacidosis, diabetes distress, self-management, quality of life and perceived level of control over diabetes; these will be will be measured at baseline and after 12 months follow-up for descriptive statistics only. An assessment of treatment fidelity, a health economic analysis and a qualitative sub-study will also be incorporated into the pilot study. ISRCTN (ref: ISRCTN74114336).
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Comunicación , Diabetes Mellitus Tipo 1/terapia , Objetivos , Grupo de Atención al Paciente/organización & administración , Envío de Mensajes de Texto , Adolescente , Adulto , Diabetes Mellitus Tipo 1/metabolismo , Estudios de Factibilidad , Humanos , Aceptación de la Atención de Salud , Relaciones Médico-Paciente , Proyectos Piloto , Ensayos Clínicos Controlados Aleatorios como Asunto , Adulto JovenRESUMEN
AIM: To explore educators' perspectives on the implementation of goal-setting and action-planning strategies within a structured diabetes self-management education programme. METHODS: Ten semi-structured interviews were conducted with diabetes self-management education providers delivering the 'Dose Adjustment for Normal Eating' (DAFNE) programme to people with Type 1 diabetes throughout Ireland. A pre-designed topic guide, focused on exploring educators' experiences of delivery and application and views on usefulness of goal-setting strategies, was used in all interviews. The interviews were recorded, transcribed and analysed using thematic analysis. RESULTS: Five main themes were identified: 'people need a plan', discussing perspectives on goal-setting's value; 'the power of the group', highlighting the impact a group format has on goal-setting practices; 'diversity and individuality', discussing differences in DAFNE participants' and educators' engagement with goal-setting; 'goal-setting's fit', exploring perspectives on how well goal-setting fits within diabetes self-management education and follow-up care; and 'feelings of inadequate psychological knowledge', addressing challenges experienced in the delivery of goal-setting components. CONCLUSION: While educators saw benefits in the implementation of goal-setting and planning strategies within diabetes self-management education, concerns about how well goal-setting currently fits within diabetes self-management education and follow-up care were evident. Additionally, many educators experienced the delivery of goal-setting and action-planning strategies as challenging and would value additional training opportunities.
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Diabetes Mellitus Tipo 1/terapia , Objetivos , Educación del Paciente como Asunto/métodos , Autocuidado/métodos , Adulto , Lista de Verificación , Diabetes Mellitus Tipo 1/epidemiología , Diabetes Mellitus Tipo 1/psicología , Femenino , Estudios de Seguimiento , Conocimientos, Actitudes y Práctica en Salud , Humanos , Entrevistas como Asunto , Irlanda/epidemiología , Masculino , Persona de Mediana Edad , Investigación Cualitativa , Autocuidado/estadística & datos numéricosRESUMEN
AIMS: Attendance at structured diabetes education has been recommended internationally for all people with Type 2 diabetes. However, attendance rates are consistently low. This qualitative study aimed to explore experiences of attending and delivering Type 2 diabetes structured education programmes in Ireland and barriers and facilitators to attendance. METHODS: People with Type 2 diabetes who had attended one of the three programmes delivered in Ireland and educators from the three programmes took part in semi-structured telephone interviews. Interviews were audio-taped, transcribed and analysed using inductive thematic analysis. RESULTS: Twelve attendees and 14 educators were interviewed. Two themes were identified in relation to experiences of programme attendance and delivery: 'Structured education: addressing an unmet need' and 'The problem of non-attendance'. The third theme 'Barriers to attendance: can't go, won't go, don't know and poor system flow' outlined how practicalities of attending, lack of knowledge of the existence and benefits, and limited resources and support for education within the diabetes care pathway impacts on attendance. The final theme 'Supporting attendance: healthcare professionals and the diabetes care pathway' describes facilitators to participants' attendance and the strategies educators perceived to be important in increasing attendance. CONCLUSIONS: Healthcare professionals have an important role in improving attendance at structured diabetes education programmes. Improving attendance may require promotion by healthcare professionals and for education to be better embedded and supported within the diabetes care pathway.
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Diabetes Mellitus Tipo 2/terapia , Conocimientos, Actitudes y Práctica en Salud , Aceptación de la Atención de Salud/estadística & datos numéricos , Educación del Paciente como Asunto/métodos , Autocuidado/métodos , Anciano , Femenino , Humanos , Irlanda/epidemiología , Masculino , Persona de Mediana Edad , Evaluación de Procesos y Resultados en Atención de Salud , Investigación CualitativaRESUMEN
AIM: Attending routine outpatient clinic appointments is a central self-management behaviour of individuals living with Type 1 diabetes. A large number of young adults with Type 1 diabetes disengage from diabetes services, which may contribute to poor psychosocial and diabetes outcomes. The aim of this study is to elicit preferences from young adults with Type 1 diabetes regarding clinic-related services to inform service delivery. METHODS: A discrete choice experiment was developed to understand the preferences of young adults with Type 1 diabetes for clinic-related services. RESULTS: Young adults recruited from young adult Type 1 diabetes clinics in 2016 completed the experiment (n = 105). Young adults with Type 1 diabetes showed a preference for shorter waiting times, seeing a nurse and a consultant, relative to a nurse alone, and a flexible booking system compared with fixed appointment times. Results suggest no preference for a nurse and a doctor, relative to a nurse alone, or other optional services (e.g. seeing dietitians or psychologists), type of HbA1c test and digital blood glucose diaries over paper-based diaries. CONCLUSION: This study highlights aspects of routine clinic appointments that are valued by young adults living with Type 1 diabetes, namely shorter waiting times at clinic, the option to see both a nurse and consultant at each visit and a flexible clinic appointment booking system. These findings suggest young adults with Type 1 diabetes value convenience and should help services to restructure their clinics to be more responsive to the needs of young adults.
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Conducta de Elección , Diabetes Mellitus Tipo 1/terapia , Prioridad del Paciente , Adolescente , Adulto , Instituciones de Atención Ambulatoria , Glucemia/análisis , Automonitorización de la Glucosa Sanguínea/instrumentación , Automonitorización de la Glucosa Sanguínea/métodos , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/epidemiología , Diabetes Mellitus Tipo 1/psicología , Femenino , Grupos Focales , Humanos , Masculino , Prioridad del Paciente/psicología , Prioridad del Paciente/estadística & datos numéricos , Satisfacción del Paciente/estadística & datos numéricos , Relaciones Profesional-Paciente , Encuestas y Cuestionarios , Factores de Tiempo , Listas de Espera , Adulto JovenRESUMEN
CACNA1C, encoding the Cav1.2 subunit of L-type Ca2+ channels, has emerged as one of the most prominent and highly replicable susceptibility genes for several neuropsychiatric disorders. Cav1.2 channels play a crucial role in calcium-mediated processes involved in brain development and neuronal function. Within the CACNA1C gene, disease-associated single-nucleotide polymorphisms have been associated with impaired social and cognitive processing and altered prefrontal cortical (PFC) structure and activity. These findings suggest that aberrant Cav1.2 signaling may contribute to neuropsychiatric-related disease symptoms via impaired PFC function. Here, we show that mice harboring loss of cacna1c in excitatory glutamatergic neurons of the forebrain (fbKO) that we have previously reported to exhibit anxiety-like behavior, displayed a social behavioral deficit and impaired learning and memory. Furthermore, focal knockdown of cacna1c in the adult PFC recapitulated the social deficit and elevated anxiety-like behavior, but not the deficits in learning and memory. Electrophysiological and molecular studies in the PFC of cacna1c fbKO mice revealed higher E/I ratio in layer 5 pyramidal neurons and lower general protein synthesis. This was concurrent with reduced activity of mTORC1 and its downstream mRNA translation initiation factors eIF4B and 4EBP1, as well as elevated phosphorylation of eIF2α, an inhibitor of mRNA translation. Remarkably, systemic treatment with ISRIB, a small molecule inhibitor that suppresses the effects of phosphorylated eIF2α on mRNA translation, was sufficient to reverse the social deficit and elevated anxiety-like behavior in adult cacna1c fbKO mice. ISRIB additionally normalized the lower protein synthesis and higher E/I ratio in the PFC. Thus this study identifies a novel Cav1.2 mechanism in neuropsychiatric-related endophenotypes and a potential future therapeutic target to explore.
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Canales de Calcio Tipo L/efectos de los fármacos , Canales de Calcio Tipo L/metabolismo , Animales , Ansiedad , Conducta Animal/efectos de los fármacos , Calcio/metabolismo , Canales de Calcio Tipo L/genética , Modelos Animales de Enfermedad , Factor 2 Eucariótico de Iniciación/genética , Factor 2 Eucariótico de Iniciación/metabolismo , Factores Eucarióticos de Iniciación/genética , Factores Eucarióticos de Iniciación/metabolismo , Predisposición Genética a la Enfermedad/genética , Hipocampo/metabolismo , Humanos , Ratones , Ratones Noqueados , Neuronas/metabolismo , Prosencéfalo/metabolismo , Células Piramidales/metabolismo , Conducta SocialRESUMEN
BACKGROUND: Obesity during pregnancy is associated with increased risk of gestational diabetes mellitus (GDM) and other complications. Physical activity is a modifiable lifestyle factor that may help to prevent these complications but many women reduce their physical activity levels during pregnancy. Interventions targeting physical activity in pregnancy are on-going but few identify the underlying behaviour change mechanisms by which the intervention is expected to work. To enhance intervention effectiveness, recent tools in behavioural science such as the Theoretical Domains Framework (TDF) and COM-B model (capability, opportunity, motivation and behaviour) have been employed to understand behaviours for intervention development. Using these behaviour change methods, this study aimed to identify the enablers and barriers to physical activity in overweight and obese pregnant women. METHODS: Semi-structured interviews were conducted with a purposive sample of overweight and obese women at different stages of pregnancy attending a public antenatal clinic in a large academic maternity hospital in Cork, Ireland. Interviews were recorded and transcribed into NVivo V.10 software. Data analysis followed the framework approach, drawing on the TDF and the COM-B model. RESULTS: Twenty one themes were identified and these mapped directly on to the COM-B model of behaviour change and ten of the TDF domains. Having the social opportunity to engage in physical activity was identified as an enabler; pregnant women suggested being active was easier when supported by their partners. Knowledge was a commonly reported barrier with women lacking information on safe activities during pregnancy and describing the information received from their midwife as 'limited'. Having the physical capability and physical opportunity to carry out physical activity were also identified as barriers; experiencing pain, a lack of time, having other children, and working prevented women from being active. CONCLUSION: A wide range of barriers and enablers were identified which influenced women's capability, motivation and opportunity to engage in physical activity with "knowledge" as the most commonly reported barrier. This study is a theoretical starting point in making a 'behavioural diagnoses' and the results will be used to inform the development of an intervention to increase physical activity levels among overweight and obese pregnant women.
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Ejercicio Físico/psicología , Obesidad/psicología , Sobrepeso/psicología , Complicaciones del Embarazo/psicología , Mujeres Embarazadas/psicología , Adulto , Actitud Frente a la Salud , Femenino , Conductas Relacionadas con la Salud , Humanos , Irlanda , Modelos Teóricos , Motivación , Embarazo , Investigación Cualitativa , Adulto JovenRESUMEN
Factor XIII (FXIII) is a plasma clotting protein involved in clot stabilization. Severe FXIII deficiency may present with severe, even fatal bleeding. Critically however, routine coagulation assays may be normal and only specific FXIII assays will detect the abnormality. Herein we discuss a case report of a patient with acquired FXIII deficiency in order to highlight the clinical challenges associated with establishing the diagnosis and discuss the treatment approach. A 70-year-old man presented with a gluteal haematoma despite no preceding personal history of bleeding. Extensive initial haemostatic investigations were normal until a specific FXIII assay showed a marked reduction in FXIII levels. With directed treatment, bleeding episodes ceased and remission was achieved. Clinical awareness of FXIII deficiency is important, so appropriate testing can be implemented in patients with unexplained bleeding diatheses, particularly those in whom bleeding responds poorly to standard replacement therapy.
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Deficiencia del Factor XIII/diagnóstico , Anciano , Deficiencia del Factor XIII/tratamiento farmacológico , Deficiencia del Factor XIII/inmunología , Humanos , Inmunosupresores/uso terapéutico , MasculinoRESUMEN
AIMS: The aim of this study was to identify early foci of α-synuclein (α-syn pathology) accumulation, subsequent progression and neurodegeneration in multiple system atrophy of the cerebellar type (MSA-C). METHODS: We analysed 70-µm-thick sections of 10 cases with MSA-C and 24 normal controls. RESULTS: MSA-C cases with the lowest burden of pathology showed α-syn glial cytoplasmic inclusions (GCIs) in the cerebellum as well as in medullary and pontine cerebellar projections. Cerebellar pathology was highly selective and severely involved subcortical white matter, whereas deep white matter and granular layer were only mildly affected and the molecular layer was spared. Loss of Purkinje cells increased with disease duration and was associated with neuronal and axonal abnormalities. Neocortex, basal ganglia and spinal cord became consecutively involved with the increasing burden of α-syn pathology, followed by hippocampus, amygdala, and, finally, the visual cortex. GCIs were associated with myelinated axons, and the severity of GCIs correlated with demyelination. CONCLUSIONS: Our findings indicate that cerebellar subcortical white matter and cerebellar brainstem projections are likely the earliest foci of α-syn pathology in MSA-C, followed by involvement of more widespread regions of the central nervous system and neurodegeneration with disease progression.
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Cerebelo/patología , Atrofia de Múltiples Sistemas/patología , alfa-Sinucleína , Anciano , Sistema Nervioso Central/patología , Progresión de la Enfermedad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Degeneración Nerviosa/patologíaRESUMEN
BACKGROUND: Many young adults with Type 1 diabetes experience poor outcomes. The aim of this systematic review was to synthesize the evidence regarding the effectiveness of interventions aimed at improving clinical, behavioural or psychosocial outcomes for young adults with Type 1 diabetes. METHODS: Electronic databases were searched. Any intervention studies related to education, support, behaviour change or health service organizational change for young adults aged between 15-30 years with Type 1 diabetes were included. A narrative synthesis of all studies was undertaken due to the large degree of heterogeneity between studies. RESULTS: Eighteen studies (of a possible 1700) were selected and categorized: Health Services Delivery (n = 4), Group Education and Peer Support (n = 6), Digital Platforms (n = 4) and Diabetes Devices (n = 4). Study designs included one randomized controlled trial, three retrospective studies, seven feasibility/acceptability studies and eight studies with a pre/post design. Continuity, support, education and tailoring of interventions to young adults were the most common themes across studies. HbA1c was the most frequently measured outcome, but only 5 of 12 studies that measured it showed a significant improvement. CONCLUSION: Based on the heterogeneity among the studies, the effectiveness of interventions on clinical, behavioural and psychosocial outcomes among young adults is inconclusive. This review has highlighted a lack of high-quality, well-designed interventions, aimed at improving health outcomes for young adults with Type 1 diabetes.
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Diabetes Mellitus Tipo 1/terapia , Mejoramiento de la Calidad , Adolescente , Adulto , Humanos , Autocuidado , Resultado del Tratamiento , Adulto JovenRESUMEN
BACKGROUND: Extant research has demonstrated that parenting behaviour can be a significant contributor to the development of brain structure and mental health during adolescence. Nonetheless, there is limited research examining these relationships during late childhood, and particularly in the critical period of brain development occurring between 8 and 10 years of age. The effects of the family environment on the brain during late childhood may have significant implications for later functioning, and particularly mental health. The Families and Childhood Transitions Study (FACTS) is a multidisciplinary longitudinal cohort study of brain development and mental health, with two waves of data collection currently funded, occurring 18-months apart, when child participants are aged approximately 8- and 10-years old. METHODS/DESIGN: Participants are 163 children (M age [SD] = 8.44 [0.34] years, 76 males) and their mothers (M age [SD] = 40.34 [5.43] years). Of the 163 families who consented to participate, 156 completed a video-recorded and observer-coded dyadic interaction task and 153 completed a child magnetic resonance imaging brain scan at baseline. Families were recruited from lower socioeconomic status (SES) areas to maximise rates of social disadvantage and variation in parenting behaviours. All experimental measures and tasks completed at baseline are repeated at an 18-month follow-up, excluding the observer coded family interaction tasks. The baseline assessment was completed in October 2015, and the 18-month follow up will be completed May 2017. DISCUSSION: This study, by examining the neurobiological and mental health consequences of variations in parenting, has the potential to significantly advance our understanding of child development and risk processes. Recruitment of lower SES families will also allow assessment of resilience factors given the poorer outcomes often associated with this population.
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Encéfalo/crecimiento & desarrollo , Desarrollo Infantil , Trastornos Mentales/etiología , Relaciones Padres-Hijo , Responsabilidad Parental/psicología , Encéfalo/diagnóstico por imagen , Encéfalo/fisiología , Niño , Protocolos Clínicos , Femenino , Humanos , Estudios Longitudinales , Imagen por Resonancia Magnética , Masculino , Trastornos Mentales/psicología , Factores de RiesgoRESUMEN
Gestational Diabetes Mellitus (GDM) is a growing concern and poses serious health risks to both mother and child1. The current study explores the psychological determinants of exercise behaviour in a sample of pregnant women with GDM. A cross-sectional survey design was employed to examine exercise behaviour, illness perceptions, perceived barriers and benefits, exercise beliefs, and exercise self-efficacy using validated questionnaires. A sample of 46 pregnant women was recruited from University College Hospital Galway, Letterkenny General Hospital, Cork University Hospital and Mayo General Hospital in Castlebar. Participant's varied; age (22-44 years), body mass index (19-41). High mean scores for Personal Control (24.5) and Treatment Control (30.2) subscales indicated strongly held positive beliefs in relation to controllability of the illness. Total MET-min/week score was not related to any psychological variables. Analysis of the IPQ-R data revealed 'diet' (n=37, 80.4%) as the most referred to cause of diabetes. Exercise belief data identified "managing weight gain" (n= 21, 45.7%), and "losing baby weight" (n= 31, 67.4%) as the most frequent beliefs for engaging in physical activity during pregnancy and post pregnancy. Further research on the psychological determinants of physical activity behaviour among this population group is needed in order to create successful intervention strategies.
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Diabetes Gestacional/psicología , Ejercicio Físico/psicología , Conocimientos, Actitudes y Práctica en Salud , Estudios Transversales , Dieta , Femenino , Conductas Relacionadas con la Salud , Humanos , Embarazo , Aumento de PesoRESUMEN
BACKGROUND: T-cell malignancies are heterogeneous in their clinical presentation and pathology, and have a poor prognosis. New biomarkers are needed to predict prognosis and to provide insights into signal pathways used by these cells. The goal of this study was to evaluate pretreatment serum cytokines in patients with newly diagnosed T-cell neoplasms and correlate with clinical outcome. PATIENTS AND METHODS: We evaluated 30 cytokines in pretreatment serum from 68 untreated patients and 14 normal controls. Significantly elevated cytokines were correlated with patterns of abnormalities, event-free survival (EFS) and overall survival (OS). RESULTS: Our data demonstrated significantly elevated levels (versus controls) of seven cytokines-epidermal growth factor (EGF), IL-6, IL-12, interferon gamma-induced protein (IP)-10, soluble interleukin (sIL)-2Rα, monokine induced by gamma interferon (MIG), and IL-1RA-in all T-cell neoplasms (P < 0.05). In the angioimmunoblastic subset, all seven cytokines except IP-10 and in the peripheral T-cell lymphoma (TCL)-not otherwise specified subset, only IP-10, sIL-2Rα, MIG, and IL-8 were statistically elevated compared with control. Of these, elevated cytokines all but EGF were predictive of an inferior EFS; IL-1RA, sIL-2Rα, and MIG predicted an inferior OS. In a multivariate analysis, sIL-2Rα [hazard ratio (HR) = 3.95; 95% confidence interval (CI) 1.61-8.38] and IL-1RA (HR = 3.28; 95% CI 1.47-7.29) levels remained independent predictors of inferior EFS. TCL cell lines secreted high levels of sIL-2Rα and expressed the IL-2Rα surface receptor. CONCLUSIONS: This report describes the cytokines relevant to prognosis in patients with untreated TCL and provides the rationale to include serum IL-1RA and sIL-2Rα as biomarkers in future trials. Inhibition of these cytokines may also be of therapeutic benefit.
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Biomarcadores de Tumor/sangre , Proteína Antagonista del Receptor de Interleucina 1/sangre , Subunidad alfa del Receptor de Interleucina-2/sangre , Linfoma de Células T/sangre , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Casos y Controles , Línea Celular Tumoral , Supervivencia sin Enfermedad , Femenino , Humanos , Estimación de Kaplan-Meier , Linfoma de Células T/mortalidad , Masculino , Persona de Mediana Edad , Pronóstico , Modelos de Riesgos Proporcionales , Estadísticas no Paramétricas , Adulto JovenRESUMEN
Climate-induced ocean warming and acidification may render marine organisms more vulnerable to infectious diseases. We investigated the effects of warming and acidification on the immune response of the sea urchin Heliocidaris erythrogramma Sea urchins were gradually introduced to four combinations of temperature and pHNIST (17°C/pH 8.15, 17°C/pH 7.6, 23°C/pH 8.15 and 23°C/pH 7.6) and then held in temperature-pH treatments for 1, 15 or 30 days to determine if the immune response would adjust to stressors over time. Coelomocyte concentration and type, phagocytic capacity and bactericidal activity were measured on day 1, 15 and 30 with different sea urchins used each time. At each time point, the coelomic fluid of individuals exposed to increased temperature and acidification had the lowest coelomocyte concentrations, exhibited lower phagocytic capacities and was least effective at inhibiting bacterial growth of the pathogen Vibrio anguillarum Over time, increased temperature alleviated the negative effects of acidification on phagocytic activity. Our results demonstrate the importance of incorporating acclimation time to multiple stressors when assessing potential responses to future ocean conditions and indicate that the immune response of H. erythrogramma may be compromised under near-future ocean warming and acidification.