Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation

Our results show that activating FGFR3 mutations can also affect the oral mucosa and that extracutaneous manifestations of EN syndrome can be subtle. We highlight the theoretical risk of the patient having an offspring with thanatophoric dysplasia as gonadal mosaicism for the R248C mutation cannot be excluded

Hip fracture incidence in the elderly in Austria: An epidemiological study covering the years 1994 to 2006

Mann E, Icks A, Haastert B, Meyer G. Hip fracture incidence in the elderly in Austria: an epidemiological study covering the years 1994 to 2006. BMC Geriatrics. 2008;8(1): 35.Background: Hip fractures in the elderly are a major public health burden. Data concerning secular trends of hip fracture incidence show divergent results for age, sex and regions. In Austria, the hip fracture incidence in the elderly population and trends have not been analysed yet. Methods: Hip fractures in the population of 50 years and above were identified from 1994 to 2006 using the national hospital discharge register. Crude incidences (IR) per 100,000 person years and standardised incidences related to the European population 2006 were analysed. Estimate of age-sex-adjusted changes was determined using Poisson regression (incidence rate ratios, IRRs). Results: The number of hospital admissions due to hip fracture increased from a total number of 11,694 in 1994 to 15,987 in 2006. Crude incidences rates (IR) per 100.000 for men increased from 244.3 (95% confidence interval (CI) 234.8 to 253.7) in 1994 to IR 330.8 (95% CI 320.8 to 340.9) in 2006 and for women from 637.3 (95% CI 624.2 to 650.4) in 1994 to IR 758.7 (95% CI 745.0 to 772.4) in 2006. After adjustment for age and sex the annual hip fracture incidence increase was only small but statistically significant (IRR per year 1.01, 95% CI 1.01 to 1.01, p < 0.01). Change of IRR over the 12 years study period was 13%. It was significantly higher for men (IRR over 12 years 1.21, 95% CI 1.16 to 1.27) than for women (IRR over 12 years 1.10, 95% CI 1.06 to 1.14) (interaction: p = 0.03). Conclusion: In contrast to findings in other countries there is no levelling-off or downward trend of hip fracture incidence from 1994 to 2006 in the Austrian elderly population. Further investigations should aim to evaluate the underlying causes in order to plan effective hip fracture reduction programmes

Vehicles for atopic dermatitis therapies: more than just a placebo

A topical vehicle is a ‘carrier system’ for an active pharmaceutical (or cosmetic) substance, referred to hereafter as the drug, but a vehicle may also be used on its own as an emollient to ameliorate dry skin. It is well established that the vehicle plays an important role in determining the bioavailability of a given drug at its ultimate target within the skin. Yet in the treatment of atopic eczema/dermatitis (AD), wherein the structure and function of the skin's outer barrier play a pivotal role in the development and course of the condition, the interaction of the vehicle with this barrier carries a particular importance. It is now clear that the often-considered inert excipients of a vehicle bring about changes within the skin at the molecular level that promote barrier restoration and enhance innate immune defenses with therapeutic value to AD patients. Moreover, the vehicle control in randomized controlled trials (RCTs) increasingly displays significant efficacy. In light of this, we consider the implications of vehicle design in relation to AD pathophysiology and the role vehicles play as controls in RCTs of new drug treatments for this condition

Hypnosis in pediatrics: applications at a pediatric pulmonary center

BACKGROUND: This report describes the utility of hypnosis for patients who presented to a Pediatric Pulmonary Center over a 30 month period. METHODS: Hypnotherapy was offered to 303 patients from May 1, 1998 – October 31, 2000. Patients offered hypnotherapy included those thought to have pulmonary symptoms due to psychological issues, discomfort due to medications, or fear of procedures. Improvement in symptoms following hypnosis was observed by the pulmonologist for most patients with habit cough and conversion reaction. Improvement of other conditions for which hypnosis was used was gauged based on patients' subjective evaluations. RESULTS: Hypnotherapy was associated with improvement in 80% of patients with persistent asthma, chest pain/pressure, habit cough, hyperventilation, shortness of breath, sighing, and vocal cord dysfunction. When improvement was reported, in some cases symptoms resolved immediately after hypnotherapy was first employed. For the others improvement was achieved after hypnosis was used for a few weeks. No patients' symptoms worsened and no new symptoms emerged following hypnotherapy. CONCLUSIONS: Patients described in this report were unlikely to have achieved rapid improvement in their symptoms without the use of hypnotherapy. Therefore, hypnotherapy can be an important complementary therapy for patients in a pediatric practice

A phase i study of daily treatment with a ceramide-dominant triple lipid mixture commencing in neonates

<p>Abstract</p> <p>Background</p> <p>Defects in skin barrier function are associated with an increase risk of eczema and atopic sensitisation. Ceramide-dominant triple lipid mixture may improve and maintain the infant skin barrier function, and if shown to be safe and feasible, may therefore offer an effective approach to reduce the incidence of eczema and subsequent atopic sensitisation. We sort to assess the safety and compliance with daily application of a ceramide-dominant triple lipid formula (EpiCeram™) commencing in the neonatal period for the prevention of eczema.</p> <p>Methods</p> <p>Ten infants (0-4 weeks of age) with a family history of allergic disease were recruited into an open-label, phase one trial of daily application of EpiCeram™ for six weeks. The primary outcomes were rate of compliance and adverse events. Data on development of eczema, and physiological properties of the skin (transepidermal water loss, hydration, and surface pH) were also measured.</p> <p>Results</p> <p>Eighty percent (8/10) of mothers applied the study cream on 80% or more of days during the six week intervention period. Though a number of adverse events unrelated to study product were reported, there were no adverse skin reactions to the study cream.</p> <p>Conclusions</p> <p>These preliminary results support the safety and parental compliance with daily applications of a ceramide-dominant formula for the prevention of eczema, providing the necessary ground work for a randomised clinical trial to evaluate EpiCeram™ for the prevention of eczema.</p> <p>Trial registration</p> <p>The study was listed at the Australian/New Zealand Clinical Trial Registry (ANZCTR): reg. no. <a href="http://www.anzctr.org.au/ACTRN12609000727246.aspx">ACTRN12609000727246</a>.</p

Activated CD4+ T cells enhance radiation effect through the cooperation of interferon-γ and TNF-α

<p>Abstract</p> <p>Background</p> <p>Approaches that enhance radiation effect may lead to improved clinical outcome and decrease toxicity. Here we investigated whether activated CD4+ T cells (aCD4) can serve as an effective radiosensitizer.</p> <p>Methods</p> <p>CD4+ T cells were activated with anti-CD3 and anti-CD28 mAbs. Hela cells were presensitized with aCD4 or conditioned supernatant (aCD4S) or recombinant cytokines for 2 days, followed γ-irradiation. The treated cells were cultured for an additional 2 to 5 days for cell proliferation, cell cycle, and western blot assays. For confirmation, other cancer cell lines were also used.</p> <p>Results</p> <p>Presensitization of tumor cells with aCD4 greatly increased tumor cell growth inhibition. Soluble factors secreted from activated CD4⁺T cells were primarily responsible for the observed effect. IFN-γ seemed to play a major role. TNF-α, though inactive by itself, significantly augmented the radiosensitizing activity of IFN-γ. aCD4S, but not IFN-γ or IFN-γ/TNF-α combination, was found to enhance the γ-irradiation-induced G2/M phase arrest. Bax expression was highly upregulated in Hela cells presensitized with aCD4S followed by γ-irradiation. The radio-sensitizing activity of aCD4 is not uniquely observed with Hela cell line, but also seen with other cancer cell lines of various histology.</p> <p>Conclusions</p> <p>Our findings suggest possible molecular and cellular mechanisms that may help explain the radio-sensitization effect of activated lymphocytes, and may provide an improved strategy in the treatment of cancer with radiotherapy.</p

Trust in Science: CRISPR-Cas9 and the Ban on Human Germline Editing

This is the final version of the article. Available from Springer Verlag via the DOI in this record.In 2015 scientists called for a partial ban on genome editing in human germline cells. This call was a response to the rapid development of the CRISPR-Cas9 system, a molecular tool that allows researchers to modify genomic DNA in living organisms with high precision and ease of use. Importantly, the ban was meant to be a trust-building exercise that promises a 'prudent' way forward. The goal of this paper is to analyse whether the ban can deliver on this promise. To do so the focus will be put on the precedent on which the current ban is modelled, namely the Asilomar ban on recombinant DNA technology. The analysis of this case will show (a) that the Asilomar ban was successful because of a specific two-step containment strategy it employed and (b) that this two-step approach is also key to making the current ban work. It will be argued, however, that the Asilomar strategy cannot be transferred to human genome editing and that the current ban therefore fails to deliver on its promise. The paper will close with a reflection on the reasons for this failure and on what can be learned from it about the regulation of novel molecular tools.The research leading to this paper has received funding from the European Research Council under the European Union’s Seventh Framework Programme (FP7/2007-2013)/ERC Grant Agreement No. 324186