Gorlin syndrome--case report

The authors present a female case diagnosed with Gorlin syndrome before admission to the Ophthalmology clinic. There are presented types of diagnosis, evolution and treatment in this case.     

Assessment of spinal mobility in ankylosing spondylitis using a video-based motion capture system

This paper describes the use of a video-based motion capture system to assess spinal mobility in patients with ankylosing spondylitis (AS). The aim of the study is to assess reliability of the system comparing it with conventional metrology in order to define and analyze new measurements that reflect better spinal mobility. A motion capture system (UCOTrack) was used to measure spinal mobility in forty AS patients and twenty healthy subjects with a marker set defining 33 3D measurements, some already being used in conventional metrology. Radiographic studies were scored using the modified Stoke Ankylosing Spondylitis Spine Score index (mSASSS). Test–retest reliability studies were performed on the same day and over a two-week period. Motion capture shows very high reliability with Intraclass Correlation Coefficient values ranging from 0.89 to 0.99, low Standard Error of the Measurement (0.37–1.33 cm and 1.58°–6.54°), correlating very well with the Bath Ankylosing Spondylitis Metrology Index (BASMI) (p < 0.001) and, in some individual measures (cervical flexion, cervical lateral flexion, back inclination, shoulder–hip angle and spinal rotation), with mSASSS (p < 0.01). mSASSS also added significantly to the variance in multivariate linear regression analysis to certain measures (back inclination, cervical flexion and cervical lateral flexion). Quantitative results obtained with motion capture system using the protocol defined show to be highly reliable in patients with AS. This technique could be a useful tool for assessing the outcome of the disease and for monitoring the evolution of spinal mobility in AS patients.     

Quality of life in patients undergoing thyroid surgery

OBJECTIVE: The extent of thyroidectomy in the management of low-risk, well-differentiated thyroid carcinoma (WDTC) has been debated extensively. Our objective was to determine if hemithyroidectomy has a less detrimental effect on quality of life (QOL) than total thyroidectomy. DESIGN: Prospective, nonblinded, nonrandomized, cohort study. SETTING: Tertiary care academic otolaryngology-head and neck surgery practice. METHODS: Using both disease-specific and global QOL instruments, patients treated with either hemi- or total thyroidectomy were prospectively followed. QOL was assessed preoperatively and for 12 months postoperatively. MAIN OUTCOME MEASURES: Scores on the two QOL instruments throughout a 12-month postoperative period. RESULTS: Patients with cancer experienced a greater drop in QOL during the first 6 months following surgery when compared with patients with benign disease (p < .03). Additionally, patients treated with total thyroidectomy did not have a significantly different QOL than patients treated with hemithyroidectomy (p > .2). CONCLUSION: These results suggest that QOL is not significantly impacted by the extent of surgery and that QOL should not be a factor in the decision-making process for the treatment of low-risk WDTC.     

A pilot study for investigating cortical binocularity in humans using fMRI adaptation

Disrupted stereovision is a feature that accompanies strabismus. This study uses an fMRI adaptation paradigm to assess the amount of cortical binocularity in subjects with normal or impaired stereopsis. We present data from a pilot study of two normally-sighted and one stereodeficient subject with alternating fixation. We adapted one eye to diagonally oriented sinusoidal gratings and tested either the same (monocular test) or the other eye (interocular transfer), using either the same or an orthogonal orientation. In normally-sighted subjects, we observed monocular adaptation but only weak interocular transfer in the striate cortex, whereas in the extrastriate cortex we found strong monocular as well as interocular adaptation. In the stereodeficient subject, monocular adaptation but no interocular transfer was obtained in the extrastriate cortex. These results suggest that impaired stereopsis is related to reduced interocular transfer of adaptation at higher levels of the cortical visual pathway.     

Spontaneous Self-Assembly of Polymeric Nanoparticles in Aqueous Media: New Insights From Microfluidics,In Situ Size Measurements,and Individual Particle Tracking

Supramolecular cyclodextrin-based nanoparticles (CD-NPs) mediated by host-guest interactions have gained increased popularity because of their “green” and simple preparation procedure, as well as their versatility in terms of inclusion of active molecules. Herein, we showed that original CD-NPs of around 100 nm are spontaneously formed in water, by mixing 2 aqueous solutions of (1) a CD polymer and (2) dextran grafted with benzophenone moieties. For the first time, CD-NPs were instantaneously produced in a microfluidic interaction chamber by mixing 2 aqueous solutions of neutral polymers, in the absence of organic solvents. Whatever the mixing conditions, CD-NPs with narrow size distributions were immediately formed upon contact of the 2 polymeric solutions. In situ size measurements showed that the CD-NPs were spontaneously formed. Nanoparticle tracking analysis was used to individually follow the CD-NPs in their Brownian motions, to gain insights on their size distribution, concentration, and stability on extreme dilution. Nanoparticle tracking analysis allowed to establish that despite their non-covalent nature, and the CD-NPs were remarkably stable in terms of concentration and size distribution, even on extreme dilution (concentrations as low as 100 ng/mL).     

Squint-induced Modification of Visual Receptive Fields in the Lateral Suprasylvian Cortex of the Cat: Binocular Interaction,Vertical Effect and Anomalous Correspondence

In this study, we investigated the receptive field properties of single cells in the lateral suprasylvian area of strabismic cats. More than three times as many cells could be driven by the non-operated than by the operated eye. Many more cells could be activated by the contralateral than by the ipsilateral eye. In both area 17 and the lateral suprasylvian area, more cells preferred horizontal rather than vertical or oblique orientations ('vertical effect'). In addition, a small percentage of cells in the lateral suprasylvian area showed an adaptive shift of spatial coordinates; this shift could provide the neural basis of anomalous retinal correspondence.     

Increased immune responses in rhesus macaques by DNA vaccination combined with electroporation

We used optimized DNA expression vectors to compare two gene delivery methodologies in rhesus macaques, namely direct DNA injection and in vivo adaptive constant-current electroporation via the intramuscular route. The use of in vivo electroporation increased levels of gene expression and immune responses. We used an optimized HIV gag expression plasmid to show the development of new cellular immune responses in SIV-infected animals controlling viremia. Furthermore, after vaccination with SIV expression plasmids the recall responses to the SIV antigens were very high, indicating that DNA is a strong boost in the presence of antiretroviral treatment in SIV-infected animals. There was substantial animal-to-animal variability in DNA expression, revealed by plasma measurements of IL-15 produced by co-injected IL-15 DNA. IL-15 expression levels correlated with peak immune responses. Electroporation led to an expansion of antigen-specific CD4+ and CD8+ T cells of both central and effector memory phenotype. These results indicate that improved gene delivery and expression by electroporation dramatically increases immunogenicity of DNA vaccines. Electroporation is thus an important method to improve the effectiveness of DNA vaccination.     

Production of pharmaceutical-grade plasmids at high concentration and high supercoiled percentage

The increased use of plasmid-based vaccines to replace their more challenging viral counterparts has increased the demand for high purity and high concentration plasmids. Here we report the production of plasmids encoding different transgenes for DNA vaccine candidates at gram scale with an integrated process consisting of batch fermentation and limited steps of purification. Plasmid products encoding for eight smallpox antigens that were combined into a bioterrorism DNA vaccine exhibited high purity with undetectable RNA, protein and endotoxin, concentration of up to 13.6 mg/mL and supercoiled percentage of 94.5 ± 1.1% after storage at −80 °C for over 1 year. The process has been scaled up for the cGMP manufacture of pharmaceutical-grade human papillomavirus and influenza DNA vaccines up to a 50 g scale, also demonstrating high purity and high concentration.     

Evaluating revefenacin as a therapeutic option for chronic obstructive pulmonary disease

ABSTRACT

Introduction

In chronic obstructive pulmonary disease (COPD), inhaled long-acting antimuscarinic agents (LAMA) are effective maintenance therapies used across all severity stages of the disease. Most of them are administered via dry powder inhalers, but these devices require a potent inspiratory flow which cannot be effectively achieved by patients with advanced disease. In such patients, inhaled therapy via nebulization might be an option.