Congenital dysplastic hips, spinal column abnormalities, fractures and progressive neurological manifestations in Tunisian family with cockayne syndrome

We report an inbred, Tunisian family in which cousins have the definite diagnosis of Cockayne syndrome. Intervening members in this family, who are intellectually normal, though, most are manifesting complications of hip dysplasia (development of dysplastic arthrosis) and various vertebral abnormalities. We presume that these are carriers who manifest dreadful bone features rather than the clinical phenotype of Cockayne syndrome, the mode of inheritance of the abnormal gene in this family is suggesting autosomal dominant, to our knowledge the family reported with such skeletal abnormalities in association to Cockayne syndrome is the largest in comparison to the international literatures.Keywords: cockayne syndrome, skeletal abnormalitiesRésuméNous faisons un rapport sur un cas résultant de croisements entre animaux de même souche, une famille tunisiene chez laquelle les cousins avaient un diagnostic précis du syndrome de cockaye. Les membres de cette famille qui interviennent et qui sont sains intellectuellement bien que la plupart des patients manifestaient des complications de la hanche dysplasie (devéloppement d\'arthrose dysplastique) et des anomalies vertébrales. Nous supposons qu\'elles sont des porteuses qui manifestent des traits épouvantables d\'os plutôt que le phénotype clinique de syndrone de cockaye, la méthode d\'héritage de ce gêne anomalie chez cette famille pourrait être autosome dominant. Pour autant que nous sachons, la famille s\'est présentée atteinte d\'une telle anomalité squelettique en association avec le syndrome de cockaye est le plus grand par rapport à la littérature internationale.Mots clés: syndrome de cockaye, anomalité squelettiqueAnnals of African Medicine Vol. 4(2) 2005: 83–8

Speciation of heavy metals in paddy soils from selected areas in Kedah and Penang, Malaysia

This study was carried out with the intention of evaluating heavy metal contamination in cultivated paddy areas. The speciation of heavy metals in paddy soils was determined in order to gain insight regarding their origin and distribution in soils. Five sampling sites were randomly selected from Kedah (Yan, Kota Setar, Kubang Pasu district) and Penang (Bumbung Lima district), where the soils constituted marine alluvial deposits. A site in Langkawi, where organic paddy farming is practised was used as the control. The sequential extraction method was adopted in order to obtain the four heavy metal fractions namely the easily leachable and ion exchange (ELFE), acid reducible (AR), oxidizable organic (OO) and resistant (RR) fractions. This study shows that the soil samples were clayey (82 to 96% of grain size <63 μm), fairly high in organic carbon (6.54 to 8.71%) and slightly acidic (pH 4.92 to 5.12). Heavy metal content in the soils varied widely and occurred in the following decreasing order of Fe>Mn>Cr>Cd>Pb>Zn>Cu. Heavy metals such as Pb, Cu, Cr and Zn predominantly occurred in the insoluble form (RR fraction), with the oxides of Fe and Mn incorporated into the clay minerals. Although, the fertilizers and pesticides studied contained low amounts of heavy metals, the elevated amount of amount of Mn and Cd in the soils (ELFE fraction) could possibly be attributed to the longterm and repeated application of these materials to the cultivated paddy areas.Key words: Heavy metals, paddy soil, pesticide, fertilizer

Cholera Epidemic in Guinea-Bissau (2008): The Importance of “Place”

As resources are limited when responding to cholera outbreaks, knowledge about where to orient interventions is crucial. We describe the cholera epidemic affecting Guinea-Bissau in 2008 focusing on the geographical spread in order to guide prevention and control activities

The stroke oxygen pilot study: a randomized control trial of the effects of routine oxygen supplementation early after acute stroke--effect on key outcomes at six months

Introduction: Post-stroke hypoxia is common, and may adversely affect outcome. We have recently shown that oxygen supplementation may improve early neurological recovery. Here, we report the six-month outcomes of this pilot study. Methods: Patients with a clinical diagnosis of acute stroke were randomized within 24 h of admission to oxygen supplementation at 2 or 3 L/min for 72 h or to control treatment (room air). Outcomes (see below) were assessed by postal questionnaire at 6 months. Analysis was by intention-to-treat, and statistical significance was set at p#0.05. Results: Out of 301 patients randomized two refused/withdrew consent and 289 (148 in the oxygen and 141 in the control group) were included in the analysis: males 44%, 51%; mean (SD) age 73 (12), 71 (12); median (IQR) National Institutes of Health Stroke Scale score 6 (3, 10), 5 (3, 10) for the two groups respectively. At six months 22 (15%) patients in the oxygen group and 20 (14%) in the control group had died; mean survival in both groups was 162 days (p= 0.99). Median (IQR) scores for the primary outcome, the modified Rankin Scale, were 3 (1, 5) and 3 (1, 4) for the oxygen and control groups respectively. The covariate-adjusted odds ratio was 1.04 (95% CI 0.67, 1.60), indicating that the odds of a lower (i.e. better) score were non-significantly higher in the oxygen group (p= 0.86). The mean differences in the ability to perform basic (Barthel Index) and extended activities of daily living (NEADL), and quality of life (EuroQol) were also non-significant. Conclusions: None of the key outcomes differed at 6 months between the groups. Although not statistically significant and generally of small magnitude, the effects were predominantly in favour of the oxygen group; a larger trial, powered to show differences in longer-term functional outcomes, is now on-going. Trial Registration: Controlled-Trials.com ISRCTN12362720; Eudract.ema.europa.eu 2004-001866-4

Development and optimization of a new suspension system for lower limb prosthesis

The increasing rate of lower limb amputations reinforces the need to develop a new suspension system that provides a better quality of life for the lower limb amputees. This study aimed to present a novel suspension system that improves amputee’s satisfaction in terms of donning and doffing process of the prosthetic lower limb. The design of the proposed suspension system was developed following the design methodology, to establish the amputee’s needs, objectives, functions, requirements and specifications in order to op-timize the final solution. The final solution is a combination of a guiding and fixation mechanisms that improve the donning and doffing process by driv-ing the serrated pin to the fixation system. The proposed suspension system is a good alternative to improve the quality of life of amputees with lower activity level on the daily basis.(undefined

The SOS Pilot Study: a RCT of routine oxygen supplementation early after acute stroke—effect on recovery of neurological function at one week

Mild hypoxia is common after stroke and associated with poor long-term outcome. Oxygen supplementation could prevent hypoxia and improve recovery. A previous study of routine oxygen supplementation showed no significant benefit at 7 and 12 months. This pilot study reports the effects of routine oxygen supplementation for 72 hours on oxygen saturation and neurological outcomes at 1 week after a stroke

Vestibular signal processing in a subject with somatosensory deafferentation: The case of sitting posture

<p>Abstract</p> <p>Background</p> <p>The vestibular system of the inner ear provides information about head translation/rotation in space and about the orientation of the head with respect to the gravitoinertial vector. It also largely contributes to the control of posture through vestibulospinal pathways. Testing an individual severely deprived of somatosensory information below the nose, we investigated if equilibrium can be maintained while seated on the sole basis of this information.</p> <p>Results</p> <p>Although she was unstable, the deafferented subject (DS) was able to remain seated with the eyes closed in the absence of feet, arm and back supports. However, with the head unconsciously rotated towards the left or right shoulder, the DS's instability markedly increased. Small electrical stimulations of the vestibular apparatus produced large body tilts in the DS contrary to control subjects who did not show clear postural responses to the stimulations.</p> <p>Conclusion</p> <p>The results of the present experiment show that in the lack of vision and somatosensory information, vestibular signal processing allows the maintenance of an active sitting posture (i.e. without back or side rests). When head orientation changes with respect to the trunk, in the absence of vision, the lack of cervical information prevents the transformation of the head-centered vestibular information into a trunk-centered frame of reference of body motion. For the normal subjects, this latter frame of reference enables proper postural adjustments through vestibular signal processing, irrespectively of the orientation of the head with respect to the trunk.</p

A class of extremising sphere-valued maps with inherent maximal tori symmetries in SO(n)

In this paper we consider an energy functional depending on the norm of the gradient and seek to extremise it over an admissible class of Sobolev maps defined on an annulus and taking values on the unit sphere whilst satisfying suitable boundary conditions. We establish the existence of an infinite family of solutions with certain symmetries to the associated nonlinear Euler-Lagrange system in even dimensions and discuss the stability of such extremisers by way of examining the positivity of the second variation of the energy at these solutions