Dopa-responsive dystonia and hyperprolactinaemia : a novel association in two sisters

Dopa-Responsive Dystonia (DRD) is a rare hereditary condition of childhood-onset dystonia which responds dramatically to treatment with levodopa. It was first described in 1971 as a "hereditary progressive basal ganglia disease with marked diurnal fluctuation". We describe a novel association between DRD and hyperprolactinaemia occurring in two sisters at the onset of puberty.peer-reviewe

Evaluation of the Clinimetric Properties of the Upper Limb Subscales of the Motor Assessment Scale Using a Rasch Analysis Model.

OBJECTIVES: To apply Rasch analysis to evaluate the psychometric properties of the composite score of the 3 upper limb subscales of the Motor Assessment Scale (UL-MAS) when administered in the acute/subacute phase post-stroke. DESIGN: Prospective data collection of UL-MAS scores. PARTICIPANTS: Eighty Eighty individuals a mean of 64.8 days (standard deviation 53.3; range 4-193 days) following the onset of unilateral stroke. METHODS: All UL-MAS test items were administered in 30 participants assessed longitudinally over 3 occasions, and in 50 participants assessed on a single occasion. These 140 observations were pooled to be evaluated using Rasch analysis. RESULTS: With the elimination of the wrist radial deviation test item, the UL-MAS demonstrated uni-dimensionality with no significant test item response bias. The test item difficulty hierarchy was validated in the Upper Arm and Hand Movements subscales, but not in the Advanced Hand Activities subscale. The acceptable floor (14%) and ceiling (9%) effects and the high Person Separation Reliability Index (0.96) indicated that the scale was appropriately targeted to discriminate statistically between groups of acute/subacute stroke participants with differing upper limb motor recovery. CONCLUSION: The findings support the psychometric properties of the composite UL-MAS score in this clinical population

A case of metastatic Wilms’ tumour with reversible distortion of mediastinal anatomy : a diagnostic challenge for the echocardiographer

Delineation and documentation of anatomy in the presence of significant mass pathology presents a diagnostic challenge. This often necessitates the implementation of more than one imaging modality in order to perform an adequate assessment. We present a three-year old boy with extensive distortion of mediastinal anatomy secondary to pleural metastases from a Wilms tumour. This limited the ability to accurately assess mediastinal anatomy and cardiac function at baseline. Reassessment following initiation of chemotherapy showed a significant reduction in size of metastases with complete resolution of the mediastinal distortion.peer-reviewe

Modelling evacuation using escalators: a London Underground dataset

This paper presents a brief analysis of an escalator human factors dataset collected in a London Underground (subway) station in England. The data analysis highlights and quantifies a variety of escalator human factors. Using the buildingEXODUS evacuation software, a series of evacuation scenarios of a hypothetical underground station are then presented. The simulation results demonstrate that escalator strategies and associated human factors can have a considerably influence upon an evacuation compared to using stairs alone

Lifetime Constraints for Late Dark Matter Decay

We consider a class of late-decaying dark-matter models, in which a dark matter particle decays to a heavy stable daughter of approximately the same mass, together with one or more relativistic particles which carry away only a small fraction of the parent rest mass. Such decays can affect galactic halo structure and evolution, and have been invoked as a remedy to some of the small scale structure-formation problems of cold dark matter. There are existing stringent limits on the dark matter lifetime if the decays produce photons. By considering examples in which the relativistic decay products instead consist of neutrinos or electron-position pairs, we derive stringent limits on these scenarios for a wide range of dark matter masses. We thus eliminate a sizable portion of the parameter space for these late decay models if the dominant decay channel involves Standard Model final states.Comment: 13 pages, 7 figures. Replaced to match published version. Discussion expanded. References added. Accepted by Phys. Rev

Modeling pedestrian evacuation movement in a swaying ship

With the advance in living standard, cruise travel has been rapidly expanding around the world in recent years. The transportation of passengers in water has also made a rapid development. It is expected that ships will be more and more widely used. Unfortunately, ship disasters occurred in these years caused serious losses. It raised the concern on effectiveness of passenger evacuation on ships. The present study thus focuses on pedestrian evacuation features on ships. On ships, passenger movements are affected by the periodical water motion and thus are quite different from the characteristic when walking on static horizontal floor. Taking into consideration of this special feature, an agent-based pedestrian model is formulized and the effect of ship swaying on pedestrian evacuation efficiency is investigated. Results indicated that the proposed model can be used to quantify the special evacuation process on ships.Comment: Traffic and Granular Flow'15, At Delft, the Netherland

Clinical and financial consequences of setting up an asthma clinic at St. Luke’s Hospital

The effects of setting up an asthma clinic were assessed in an audit study. A comparison was made between the quality and quantity of medication used by patients before and after attending the asthma clinic. The number and severity of exacerbations during a six month period before and a six month period after attending were also assessed. The cost of treatment before and after was also calculated. In 14% of patients, occupational factors, drugs or underlying lung disease were significant contributors to asthma. The number of acute episodes of severe asthma were reduced from 98 to 47, with hospital admissions falling from 26 to 1. Pulmonary function (%FEV1) improved in the group as a whole with the number of patients having their best FEV above 80% improving from 44 to 71. In spite of the expense of high cost drugs and the running costs of the clinic there were substantial savings largely from the reduced number of hospital admissions. The calculated annual cost fell from Lm 22,769 to Lm 10,654.peer-reviewe

Household decision-making about delivery in health facilities: evidence from Tanzania.

This study investigated how partners' perceptions of the healthcare system influence decisions about delivery-location in low-resource settings. A multistage population-representative sample was used in Kasulu district, Tanzania, to identify women who had given birth in the last five years and their partners. Of 826 couples in analysis, 506 (61.3%) of the women delivered in the home. In multivariate analysis, factors associated with delivery in a health facility were agreement of partners on the importance of delivering in a health facility and agreement that skills of doctors are better than those of traditional birth attendants. When partners disagreed, the opinion of the woman was more influential in determining delivery-location. Agreement of partners regarding perceptions about the healthcare system appeared to be an important driver of decisions about delivery-location. These findings suggest that both partners should be included in the decision-making process regarding delivery to raise rates of delivery at facility

Haemoglobin scavenging after subarachnoid haemorrhage

Rapid and effective clearance of cell-free haemoglobin after subarachnoid haemorrhage (SAH) is important to prevent vasospasm and neurotoxicity and improve long-term outcome. Haemoglobin is avidly bound by haptoglobin, and the complex is cleared by CD163 expressed on the membrane surface of macrophages. We studied the kinetics of haemoglobin and haptoglobin in cerebrospinal fluid after SAH. We show that haemoglobin levels rise gradually after SAH. Haptoglobin levels rise acutely with aneurysmal rupture as a result of injection of blood into the subarachnoid space. Although levels decline as haemoglobin scavenging occurs, complete depletion of haptoglobin does not occur and levels start rising again, indicating saturation of CD163 sites available for haptoglobin-haemoglobin clearance. In a preliminary neuropathological study we demonstrate that meningeal CD163 expression is upregulated after SAH, in keeping with a proinflammatory state. However, loss of CD163 occurs in meningeal areas with overlying blood compared with areas without overlying blood. Becauses ADAM17 is the enzyme responsible for shedding membrane-bound CD163, its inhibition may be a potential therapeutic strategy after SAH