New tools for self-organized pattern formation

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Genetic testing of children for adult-onset conditions: opinions of the British adult population and implications for clinical practice

This study set out to explore the attitudes of a representative sample of the British public towards genetic testing in children to predict disease in the future. We sought opinions about genetic testing for adult-onset conditions for which no prevention/treatment is available during childhood, and about genetic 'carrier' status to assess future reproductive risks. The study also examined participants' level of agreement with the reasons professional organisations give in favour of deferring such testing. Participants (n=2998) completed a specially designed questionnaire, distributed by email. Nearly half of the sample (47%) agreed that parents should be able to test their child for adult-onset conditions, even if there is no treatment or prevention at time of testing. This runs contrary to professional guidance about genetic testing in children. Testing for carrier status was supported by a larger proportion (60%). A child's future ability to decide for her/himself if and when to be tested was the least supported argument in favour of deferring testing.European Journal of Human Genetics advance online publication, 5 November 2014; doi:10.1038/ejhg.2014.221

An unusual case of metastasis to the left side of the heart: a case report

<p>Abstract</p> <p>Introduction</p> <p>Cardiac metastases are found in six to 20% of autopsies of patients with malignant neoplasm. The most common neoplasms that metastasize to the heart are malignant melanoma, lymphoma, and leukemia, but the relative numbers are greater with breast and lung cancers, reflecting the most common incidence of these cancers.</p> <p>Case presentation</p> <p>A 60-year-old Hispanic man presented to our hospital after being transferred from an outside hospital for workup and evaluation of an adrenal mass of the abdomen and pelvis, found on computed tomography. His chief complaint upon admission was altered mental status. Physical examination was unremarkable. He was alert and oriented and had a dry and non-erythematous oropharynx, and bilateral diffuse wheezing on lung examination. Computed tomography of the chest showed multiple hypodense lesions in the left ventricular myocardium, suggestive of metastases. There were also tiny sub-centimeter nodular densities in the right upper and lower lobes. Adrenal glands contained hypodense lesions, which showed characteristic adenocarcinomatous malignant cells.</p> <p>Conclusion</p> <p>Cancers which have metastasized to the heart are found in six to 20% of patients with malignant neoplasms. The right side of the heart is more commonly involved in metastasis. This study is unusual in that a tumor of an unknown primary origin had metastasized to the left side of the heart.</p

A Mycobacterial Enzyme Essential for Cell Division Synergizes with Resuscitation-Promoting Factor

The final stage of bacterial cell division requires the activity of one or more enzymes capable of degrading the layers of peptidoglycan connecting two recently developed daughter cells. Although this is a key step in cell division and is required by all peptidoglycan-containing bacteria, little is known about how these potentially lethal enzymes are regulated. It is likely that regulation is mediated, at least partly, through protein–protein interactions. Two lytic transglycosylases of mycobacteria, known as resuscitation-promoting factor B and E (RpfB and RpfE), have previously been shown to interact with the peptidoglycan-hydrolyzing endopeptidase, Rpf-interacting protein A (RipA). These proteins may form a complex at the septum of dividing bacteria. To investigate the function of this potential complex, we generated depletion strains in M. smegmatis. Here we show that, while depletion of rpfB has no effect on viability or morphology, ripA depletion results in a marked decrease in growth and formation of long, branched chains. These growth and morphological defects could be functionally complemented by the M. tuberculosis ripA orthologue (rv1477), but not by another ripA-like orthologue (rv1478). Depletion of ripA also resulted in increased susceptibility to the cell wall–targeting β-lactams. Furthermore, we demonstrate that RipA has hydrolytic activity towards several cell wall substrates and synergizes with RpfB. These data reveal the unusual essentiality of a peptidoglycan hydrolase and suggest a novel protein–protein interaction as one way of regulating its activity

"I am pregnant and my husband has diabetes. Is there a risk for my child?" A qualitative study of questions asked by email about the role of genetic susceptibility to diabetes

<p>Abstract</p> <p>Background</p> <p>Diabetes Mellitus is a global health problem. Scientific knowledge on the genetics of diabetes is expanding and is more and more utilised in clinical practice and primary prevention strategies. Health consumers have become increasingly interested in genetic information. In the Netherlands, the <it>National Genetic Research and Information Center </it>provides online information about the genetics of diabetes and thereby offers website visitors the opportunity to ask a question per email. The current study aims at exploring people's need of (additional) information about the role of inheritance in diabetes. Results may help to tailor existing clinical and public (online) genetic information to the needs of an increasing population at risk for diabetes.</p> <p>Methods</p> <p>A data base with emailed questions about diabetes and inheritance (n = 172) is used in a secondary content analysis. Questions are posted in 2005-2009 via a website providing information about more than 600 inheritable disorders, including all diabetes subtypes. Queries submitted were classified by contents as well as persons' demographic profiles.</p> <p>Results</p> <p>Questions were received by diabetes patients (49%), relatives (30%), and partners (21%). Questioners were relatively young (54.8% ≤ 30 years) and predominantly female (83%). Most queries related to type 1 diabetes and concerned topics related to (future) pregnancy and family planning. Questioners mainly asked for risk estimation, but also clarifying information (about genetics of diabetes in general) and advice (mostly related to family planning) was requested. Preventive advice to reduce own diabetes risk was hardly sought.</p> <p>Conclusions</p> <p>Genetic information on diabetes provided by professionals or public health initiatives should address patients, as well as relatives and partners. In particular women are receptive to genetic information; they worry about the diabetes related health of (future) offspring. It seems important that information on the contribution of genetics to type 1 diabetes is more readily available. Considering the high prevalence of type 2 diabetes with strong evidence for a genetic predisposition, more effort seems needed to promote awareness around familial clustering and primary prevention.</p

Feasibility of a mental practice intervention in stroke patients in nursing homes; a process evaluation

<p>Abstract</p> <p>Background</p> <p>Within a multi-centre randomised controlled trial in three nursing homes, a process evaluation of a mental practice intervention was conducted. The main aims were to determine if the intervention was performed according to the framework and to describe the therapists' and participants' experiences with and opinions on the intervention.</p> <p>Methods</p> <p>The six week mental practice intervention was given by physiotherapists and occupational therapists in the rehabilitation teams and consisted of four phases: explanation of imagery, teaching patients how to use imagery, using imagery as part of therapy, and facilitating the patient in using it alone and for new tasks. It had a mandatory and an optional part. Data were collected by means of registration forms, pre structured patient files, patient logs and self-administered questionnaires.</p> <p>Results</p> <p>A total of 14 therapists and 18 patients with stroke in the sub acute phase of recovery were involved. Response rates differed per assessment (range 57-93%). Two patients dropped out of the study (total n = 16). The mandatory part of the intervention was given to 11 of 16 patients: 13 received the prescribed amount of mental practice and 12 practiced unguided outside of therapy. The facilitating techniques of the optional part of the framework were partly used. Therapists were moderately positive about the use of imagery in this specific sample. Although it was more difficult for some patients to generate images than others, all patients were positive about the intervention and reported perceived short term benefits from mental practice.</p> <p>Conclusions</p> <p>The intervention was less feasible than we hoped. Implementing a complex therapy delivered by existing multi-professional teams to a vulnerable population with a complex pathology poses many challenges.</p

Interactive Effects of Time, CO\u3csub\u3e2\u3c/sub\u3e, N, and Diversity on Total Belowground Carbon Allocation and Ecosystem Carbon Storage in a Grassland Community

Predicting if ecosystems will mitigate or exacerbate rising CO2 requires understanding how elevated CO2 will interact with coincident changes in diversity and nitrogen (N) availability to affect ecosystem carbon (C) storage. Yet achieving such understanding has been hampered by the difficulty of quantifying belowground C pools and fluxes. Thus, we used mass balance calculations to quantify the effects of diversity, CO2, and N on both the total amount of C allocated belowground by plants (total belowground C allocation, TBCA) and ecosystem C storage in a periodically burned, 8-year Minnesota grassland biodiversity, CO2, and N experiment (BioCON). Annual TBCA increased in response to elevated CO2, enriched N, and increasing diversity. TBCA was positively related to standing root biomass. After removing the influence of root biomass, the effect of elevated CO2 remained positive, suggesting additional drivers of TBCA apart from those that maintain high root biomass. Removing root biomass effects resulted in the effects of N and diversity becoming neutral or negative (depending on year), suggesting that the positive effects of diversity and N on TBCA were related to treatmentdriven differences in root biomass. Greater litter production in high diversity, elevated CO2, and enhanced N treatments increased annual ecosystem C loss in fire years and C gain in non-fire years, resulting in overall neutral C storage rates. Our results suggest that frequently burned grasslands are unlikely to exhibit enhanced C sequestration with increasing atmospheric CO2 levels or N deposition