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Imprinting disorders are associated with mutations and epimutations affecting imprinted genes, that is those whose expression is restricted by parent of origin. Their diagnosis is challenging for two reasons: firstly, their clinical features, particularly prenatal and postnatal growth disturbance, are heterogeneous and partially overlapping; secondly, their underlying molecular defects include mutation, epimutation, copy number variation, and chromosomal errors, and can be further complicated by somatic mosaicism and multi-locus methylation defects. It is currently unclear to what extent the observed phenotypic heterogeneity reflects the underlying molecular pathophysiology; in particular, the molecular and clinical diversity of multilocus methylation defects remains uncertain. To address these issues we performed comprehensive methylation analysis of imprinted genes in a research cohort of 285 patients with clinical features of imprinting disorders, with or without a positive molecular diagnosis. 20 of 91 patients (22%) with diagnosed epimutations had methylation defects of additional imprinted loci, and the frequency of developmental delay and congenital anomalies was higher among these patients than those with isolated epimutations, indicating that hypomethylation of multiple imprinted loci is associated with increased diversity of clinical presentation. Among 194 patients with clinical features of an imprinting disorder but no molecular diagnosis, we found 15 (8%) with methylation anomalies, including missed and unexpected molecular diagnoses. These observations broaden the phenotypic and epigenetic definitions of imprinting disorders, and show the importance of comprehensive molecular testing for patient diagnosis and management.
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Metilação de DNA , Epigenômica , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/genética , Impressão Genômica , Estudos de Coortes , Epigenômica/métodos , Heterogeneidade Genética , Loci Gênicos , Testes Genéticos , Humanos , FenótipoRESUMO
This article was migrated. The article was marked as recommended. Within the UK, some medical schools have introduced secular mindfulness concepts to their students. However, knowledge of this development within academic medical institutions is largely anecdotal and not published. As such, this audit's objective was to assess the scope of 'Mindfulness Activities' (MA) across UK medical schools. In May 2018 a list of the current UK Medical Schools was retrieved from the Medical Schools Council website ( MSC, 2018) and the Heads of Faculty of each of the 38 UK medical schools were contacted and invited to take part, by completing a short survey. MA were categorised into three types of activity; 'required', 'elective' and 'wellbeing'. 'Required' and 'elective' MA take place within curriculum time, whereas wellbeing MA was additional to the medical training. Based on this audit, nearly 80% (30/38) medical schools have some form of MA accessible to their students. This audit indicates that there is a relatively high level of MA within UK medical education. These findings, may indicate an acceptance of MT within the UK medical culture. More research is needed.
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The cultivation of perennial biomass plants on marginal soils can serve as a sustainable alternative to conventional biomass production via annual cultures on fertile soils. Sida hermaphrodita is a promising species to be cultivated in an extensive cropping system on marginal soils in combination with organic fertilization using biogas digestates. In order to enrich this cropping system with nitrogen (N) and to increase overall soil fertility of the production system, we tested the potential of intercropping with leguminous species. In a 3-year outdoor mesocosm study, we intercropped established S. hermaphrodita plants with the perennial legume species Trifolium pratense, T. repens, Melilotus albus, and Medicago sativa individually to study their effects on plant biomass yields, soil N, and above ground biomass N. As a control for intercropping, we used a commercial grass mixture without N2-fixing species as well as a no-intercropping treatment. Results indicate that intercropping in all intercropping treatments increased the total biomass yield, however, grass species competed with S. hermaphrodita for N more strongly than legumes. Legumes enriched the cropping system with fixed atmospheric nitrogen (N2) and legume facilitation effects varied between the legume species. T. pratense increased the biomass yield of S. hermaphrodita and increased the total biomass yield per mesocosm by 300%. Further, the total above ground biomass of S. hermaphrodita and T. pratense contained seven times more N compared to the mono-cropped S. hermaphrodita. T. repens also contributed highly to N facilitation. We conclude that intercropping of legumes, especially T. pratense and T. repens can stimulate the yield of S. hermaphrodita on marginal soils for sustainable plant biomass production.
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The rapid expansion of human activities threatens ocean-wide biodiversity. Numerous marine animal populations have declined, yet it remains unclear whether these trends are symptomatic of a chronic accumulation of global marine extinction risk. We present the first systematic analysis of threat for a globally distributed lineage of 1,041 chondrichthyan fishes-sharks, rays, and chimaeras. We estimate that one-quarter are threatened according to IUCN Red List criteria due to overfishing (targeted and incidental). Large-bodied, shallow-water species are at greatest risk and five out of the seven most threatened families are rays. Overall chondrichthyan extinction risk is substantially higher than for most other vertebrates, and only one-third of species are considered safe. Population depletion has occurred throughout the world's ice-free waters, but is particularly prevalent in the Indo-Pacific Biodiversity Triangle and Mediterranean Sea. Improved management of fisheries and trade is urgently needed to avoid extinctions and promote population recovery. DOI: http://dx.doi.org/10.7554/eLife.00590.001.
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Extinção Biológica , Tubarões/crescimento & desenvolvimento , Rajidae/crescimento & desenvolvimento , Animais , Conservação dos Recursos Naturais , Humanos , Oceanos e Mares , Medição de RiscoRESUMO
On 1st April 2010, the British Government announced designation of the British Indian Ocean Territory--or Chagos Archipelago--as the world's largest marine protected area (MPA). This near pristine ocean ecosystem now represents 16% of the worlds fully protected coral reef, 60% of the world's no-take protected areas and an uncontaminated reference site for ecological studies. In addition these gains for biodiversity conservation, the Chagos/BIOT MPA also offers subsidiary opportunities to act as a fisheries management tool for the western Indian Ocean, considering its size and location. While the benefits of MPAs for coral-reef dwelling species are established, there is uncertainty about their effects on pelagic migratory species. This paper reviews the increasing body of evidence to demonstrate that positive, measurable reserve effects exist for pelagic populations and that migratory species can benefit from no-take marine reserves.
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Biodiversidade , Conservação dos Recursos Naturais , Recifes de Corais , Pesqueiros , Migração Animal , Animais , Ecossistema , Oceano ÍndicoRESUMO
BACKGROUND: Many of the clinical and neuroendocrine features of bipolar disorder involve hypothalamic structures. Although current neuroimaging techniques inadequately resolve the structural components of the hypothalamus, evidence of derangement can be sought by examining the adjacent third ventricle and the functionally related pituitary. AIMS: To investigate the structure and function of the hypothalamic-pituitary-adrenal axis in euthymic patients with bipolar disorder. METHOD: Euthymic adult patients with bipolar disorder (n=49) were compared with matched normal control subjects (n=47). Pituitary volume and third ventricle width were assessed on MRI scans. Basal salivary cortisol levels were measured. RESULTS: The width of the third ventricle in patients with bipolar disorder exceeded that of controls (mean +/- SD (in mm): 3.87 +/- 1.96 versus 2.56 +/- 1.34; d=0.76, ANOVA F=12.7, p=0.001), with the greatest differences found in males. Third ventricle width increased with age across the groups (F=16.97, p<0.001). Pituitary volumes did not differ between patients and controls (mean +/- SD (in mm(3)): 632 +/- 176 versus 679 +/- 159). Overall, females had larger pituitaries than males (703 +/- 160 versus 595 +/- 161; d=0.67, F=9.65, p=0.003; all subjects), but female patients had smaller pituitaries compared to female controls (637 +/- 178 versus 756 +/- 126; d=0.65, F=5.04, p=0.03). No difference was found in a comparable analysis of males. Pituitary volume did not differ between patients prescribed and not prescribed antipsychotic drugs. Basal salivary cortisol levels did not differ between patients and controls. CONCLUSIONS: In euthymic patients with normal basal cortisol levels, pituitary volume and third ventricle width were found to differ from normal controls. These differences were related to gender, may be important in the pathogenesis of bipolar disorder and could link the vegetative and endocrine abnormalities seen in this condition. Such findings may reflect a trait abnormality or be a consequence of previous episodes.
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Transtorno Bipolar/patologia , Hipófise/patologia , Terceiro Ventrículo/patologia , Adulto , Feminino , Humanos , Hidrocortisona/análise , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Tamanho do Órgão , Saliva/química , Fatores SexuaisRESUMO
Using data for 25,780 species categorized on the International Union for Conservation of Nature Red List, we present an assessment of the status of the world's vertebrates. One-fifth of species are classified as Threatened, and we show that this figure is increasing: On average, 52 species of mammals, birds, and amphibians move one category closer to extinction each year. However, this overall pattern conceals the impact of conservation successes, and we show that the rate of deterioration would have been at least one-fifth again as much in the absence of these. Nonetheless, current conservation efforts remain insufficient to offset the main drivers of biodiversity loss in these groups: agricultural expansion, logging, overexploitation, and invasive alien species.