Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms.

A genetic predisposition for thoracic aortic aneurysms and dissections (TAAD) can be inherited in an autosomal dominant manner with decreased penetrance and variable expression. Four genes identified to date for familial TAAD account for approximately 20% of the heritable predisposition. In a cohort of 514 families with two or more members with presumed autosomal dominant TAAD, 48 (9.

Preparation, Characterization and Performance of Templated Silica Membranes in Non-Osmotic Desalination.

In this work we investigate the potential of a polyethylene glycol-polypropylene glycol-polyethylene glycol, tri-block copolymer as a template for a hybrid carbon/silica membrane for use in the non-osmotic desalination of seawater. Silica samples were loaded with varying amounts of tri-block copolymer and calcined in a vacuum to carbonize the template and trap it within the silica matrix. The resultant xerogels were analyzed with FTIR, Thermogravimetric analysis (TGA) and N₂ sorption techniques, wherein it was determined that template loadings of 10 and 20% produced silica networks with enhanced pore volumes and appropriately sized pores for desalination.

ErbB-2 blockade and prenyltransferase inhibition alter epidermal growth factor and epidermal growth factor receptor trafficking and enhance (111)In-DTPA-hEGF Auger electron radiation therapy.

Unlabelled: The intracellular distribution of Auger electron-emitting radiopharmaceuticals is a determinant of cytotoxicity. However, the mechanisms by which these agents are routed through the cell are ill understood. The aim of this study was to investigate how trafficking of (111)In-labeled human epidermal growth factor ((111)In-DTPA-hEGF) relates to that of the EGF receptor (EGFR) and whether coadministration of agents that modulate EGFR signaling alters the efficacy of (111)In-DTPA-hEGF.

[image omitted] Review of five instruments for the assessment of Asperger's Disorder in adults.

Due to the recent inclusion of Asperger's Disorder (AD) in the Diagnostic and Statistical Manual of Mental Disorders (APA, 1994) and the International Classification of Diseases (WHO, 1993), concerns regarding diagnosis of AD, particularly in adults, are emerging. Many existing instruments used to assess Pervasive Developmental Disorder are more appropriate for identifying Autistic Disorder (AU) in children, and their usefulness for assessing AD in adults is questionable. We describe and critically review five instruments created specifically for identifying AD in adults.

Iron Oxide Silica Derived from Sol-Gel Synthesis.

In this work we investigate the effect of iron oxide embedded in silica matrices as a function of Fe/Si molar ratio and sol pH. To achieve homogeneous dispersion of iron oxide particles, iron nitrate nonahydrate was dissolved in hydrogen peroxide and was mixed with tetraethyl orthosilicate and ethanol in a sol-gel synthesis method. Increasing the calcination temperature led to a reduction in surface area, although the average pore radius remained almost constant at about 10 Å, independent of the Fe/Si molar ratio or sol pH.

Pre-clinical evaluation of a 3-nitro-1,2,4-triazole analogue of [18F]FMISO as hypoxia-selective tracer for PET.

Hypoxia in solid tumours is associated with the promotion of various metabolic mechanisms and induces resistance to radio- and chemotherapy. Non-invasive positron emission tomography (PET) or single photon emission computed tomography by use of selective biomarkers has emerged as valuable tools for the detection of hypoxic areas within tumours so treatment can be modified accordingly. The aim of this investigation was to evaluate [(18)F]3-NTR, a 3-nitro-1,2,4-triazole analogue (N(1) substituted) of [(18)F]FMISO as a potential hypoxia selective tracer.

Melatonin versus placebo in children with autism spectrum conditions and severe sleep problems not amenable to behaviour management strategies: a randomised controlled crossover trial.

Twenty-two children with autism spectrum disorders who had not responded to supported behaviour management strategies for severe dysomnias entered a double blind, randomised, controlled crossover trial involving 3 months of placebo versus 3 months of melatonin to a maximum dose of 10 mg. 17 children completed the study. There were no significant differences between sleep variables at baseline.

Use of dynamic soil-vegetation models to assess impacts of nitrogen deposition on plant species composition: an overview.

Field observations and experimental data of effects of nitrogen (N) deposition on plant species diversity have been used to derive empirical critical N loads for various ecosystems. The great advantage of such an approach is the inclusion of field evidence, but there are also restrictions, such as the absence of explicit criteria regarding significant effects on the vegetation, and the impossibility to predict future impacts when N deposition changes. Model approaches can account for this.

Mapping the local protein interactome of the NuA3 histone acetyltransferase.

Protein-protein interactions modulate cellular functions ranging from the activity of enzymes to signal transduction cascades. A technology termed transient isotopic differentiation of interactions as random or targeted (transient I-DIRT) is described for the identification of stable and transient protein-protein interactions in vivo. The procedure combines mild in vivo chemical cross-linking and non-stringent affinity purification to isolate low abundance chromatin-associated protein complexes.

A noncanonical bromodomain in the AAA ATPase protein Yta7 directs chromosomal positioning and barrier chromatin activity.

Saccharomyces cerevisiae Yta7 is a barrier active protein that modulates transcriptional states at the silent mating locus, HMR. Additionally, Yta7 regulates histone gene transcription and has overlapping functions with known histone chaperones. This study focused on deciphering the functional role of the noncanonical Yta7 bromodomain.

Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.

Background: Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause Loeys-Dietz syndrome (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other arteries, craniosynostosis, cleft palate/bifid uvula, hypertelorism, congenital heart defects, arterial tortuosity, and mental retardation. TGFBR2 mutations can also cause TAAD in the absence of features of LDS in large multigenerational families, yet only sporadic LDS cases or parent-child pairs with TGFBR1 mutations have been reported to date.

Methods: The authors identified TGFBR1 missense mutations in multigenerational families with TAAD by DNA sequencing.

Longitudinal regional brain volume changes quantified in normal aging and Alzheimer's APP x PS1 mice using MRI.

In humans, mutations of amyloid precursor protein (APP) and presenilins (PS) 1 and 2 are associated with amyloid deposition, brain structural change and cognitive decline, like in Alzheimer's disease (AD). Mice expressing these proteins have illuminated neurodegenerative disease processes but, unlike in humans, quantitative imaging has been little used to systematically determine their effects, or those of normal aging, on brain structure in vivo. Accordingly, we investigated wildtype (WT) and TASTPM mice (expressing human APP(695(K595N, M596L)) x PS1(M146V)) longitudinally using MRI.

Key role for Bak activation and Bak-Bax interaction in the apoptotic response to vinblastine.

Microtubule inhibitors such as vinblastine cause mitotic arrest and subsequent apoptosis through the intrinsic mitochondrial pathway. However, although Bcl-2 family proteins have been implicated as distal mediators, their precise role is largely unknown. In this study, we investigated the role of Bak in vinblastine-induced apoptosis.

Measuring the functional responses of farmland birds: an example for a declining seed-feeding bunting.

1. Many farmland bird species have undergone significant declines. It is important to predict the effect of agricultural change on these birds and their response to conservation measures.

Ultra-fast and accurate assessment of cardiac function in rats using accelerated MRI at 9.4 Tesla.

MRI can accurately and reproducibly assess cardiac function in rodents but requires relatively long imaging times. Therefore, parallel imaging techniques using a 4-element RF-coil array and MR sequences for cardiac MRI in rats were implemented at ultra-high magnetic fields (9.4 Tesla [T]).

Nitrogen deposition increases the acquisition of phosphorus and potassium by heather Calluna vulgaris.

Increased plant productivity due to nitrogen pollution increases the strength of the global carbon sink, but is implicated in plant diversity loss. However, modelling and experimental studies have suggested that these effects are constrained by availability of other nutrients. In a survey of element concentrations in Calluna vulgaris across an N deposition gradient in the UK, shoot concentrations of N and more surprisingly phosphorus and potassium were positively correlated with N deposition; tissue N/P ratio even decreased with N deposition.

Assessing the impacts of agricultural intensification on biodiversity: a British perspective.

Agricultural intensification is best considered as the level of human appropriation of terrestrial net primary production. The global value is set to increase from 30%, increasing pressures on biodiversity. The pressures can be classified in terms of spatial scale, i.

Characteristics and psychosocial needs of victims of violent crime identified at a public-sector hospital: data from a large clinical trial.

Objective: This study explores the feasibility of recruiting acutely injured public-sector crime victims into a research protocol and identifies baseline characteristics associated with posttraumatic distress in the enrolled sample (N=541).

Method: Assertive research tracking methods were used to enroll participants, who completed baseline interviews. Descriptive statistics were used to define characteristics of the sample and prevalence of psychosocial problems and posttraumatic distress.

Clinical confidence.

Clinical knowledge summaries on how to manage almost 500 clinical scenarios give up-to-date information on the 'what, why and how' of best treatments.

Guided imagery and distraction therapy in paediatric hospice care.

Available evidence indicates deficits in the pain management of children with analgesic drugs used outside licensed boundaries, in situations where their pharmacokinetics are untested. A case series is used to demonstrate the effectiveness of more holistic techniques such as guided imagery and distraction therapy in reducing the pain experienced by children in the hospice setting. Using these techniques it may be possible to reduce the amount of analgesia or the frequency of administration.

Best practice in primary care pathology: review 7.

This seventh best-practice review examines four series of common primary care questions in laboratory medicine: (1) blood count abnormalities 2; (2) cardiac troponins; (3) high-density lipoprotein cholesterol; and (4) viral diseases 2. The review is presented in a question-answer format, with authorship attributed for each question series. The recommendations are a précis of guidance found using a standardised literature search of national and international guidance notes, consensus statements, health policy documents and evidence-based medicine reviews, supplemented by Medline Embase searches to identify relevant primary research documents.

Biotic homogenization and changes in species diversity across human-modified ecosystems.

Changing land use and the spread of 'winning' native or exotic plants are expected to lead to biotic homogenization (BH), in which previously distinct plant communities become progressively more similar. In parallel, many ecosystems have recently seen increases in local species (alpha-) diversity, yet gamma-diversity has continued to decline at larger scales. Using national ecological surveillance data for Great Britain, we quantify relationships between change in alpha-diversity and between-habitat homogenizations at two levels of organization: species composition and plant functional traits.

Best practice in primary care pathology: review 3.

This best practice review examines four series of common primary care questions in laboratory medicine: (i) "minor" blood platelet count and haemoglobin abnormalities; (ii) diagnosis and monitoring of anaemia caused by iron deficiency; (iii) secondary hyperlipidaemia and hypertriglyceridaemia; and (iv) glycated haemoglobin and microalbumin use in diabetes. The review is presented in question-answer format, referenced for each question series. The recommendations represent a précis of guidance found using a standardised literature search of national and international guidance notes, consensus statements, health policy documents and evidence-based medicine reviews, supplemented by Medline Embase searches to identify relevant primary research documents.

Going to the doctors: the views of mothers of children with recurrent abdominal pain.

Objectives: to explore how mothers of children with recurrent abdominal pain view seeking medical help on behalf of their children.

Design: qualitative interview study.

Setting: paediatric clinics and schools.