Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications.

Long-term observations of individuals with the so-called Langer-Giedion (LGS) or tricho-rhino-phalangeal type II (TRPS2) are scarce. We report here a on follow-up of four LGS individuals, including one first described by Andres Giedion in 1969, and review the sparse publications on adults with this syndrome which comprises ectodermal dysplasia, multiple cone-shaped epiphyses prior to puberty, multiple cartilaginous exostoses, and mostly mild intellectual impairment. LGS is caused by deletion of the chromosomal segment 8q24.11-q24.13 containing among others the genes EXT1 and TRPS1. Most patients with TRPS2 are only borderline or mildly cognitively delayed, and few are of normal intelligence. Their practical skills are better than their intellectual capability, and, for this reason and because of their low self-esteem, they are often underestimated. Some patients develop seizures at variable age. Osteomas on processes of cervical vertebrae may cause pressure on cervical nerves or dissection of cerebral arteries. Joint stiffness is observed during childhood and changes later to joint laxity causing instability and proneness to trauma. Perthes disease is not rare. Almost all males become bald at or soon after puberty, and some develop (pseudo) gynecomastia. Growth hormone deficiency was found in a few patients, TSH deficiency so far only in one. Puberty and fertility are diminished, and no instance of transmission of the deletion from a non-mosaic parent to a child has been observed so far. Several affected females had vaginal atresia with consequent hydrometrocolpos.

Can Remotely Sensed Meteorological Data Significantly Contribute to Reduce Costs of Tsetse Surveys?

A 0.125 degree raster or grid-based Geographic Information System with data on tsetse, trypanosomosis, animal production, agriculture and land use has recently been developed in Togo. This paper addresses the problem of generating tsetse distribution and abundance maps from remotely sensed data, using a restricted amount of field data. A discriminant analysis model is tested using contemporary tsetse data and remotely sensed, low resolution data acquired from the National Oceanographic and Atmospheric Administration and Meteosat platforms. A split sample technique is adopted where a randomly selected part of the field measured data (training set) serves to predict the other part (predicted set). The obtained results are then compared with field measured data per corresponding grid-square. Depending on the size of the training set the percentage of concording predictions varies from 80 to 95 for distribution figures and from 63 to 74 for abundance. These results confirm the potential of satellite data application and multivariate analysis for the prediction, not only of the tsetse distribution, but more importantly of their abundance. This opens up new avenues because satellite predictions and field data may be combined to strengthen or substitute one another and thus reduce costs of field surveys.

Restriction fragment length polymorphism of 195 bp repeated satellite dna of Trypanosoma cruzi supports the existence of two phylogenetic groups

The restriction fragment length polymorphism of the 195 bp repeated DNA sequence of Trypanosoma cruzi was analyzed among 23 T. cruzi stocks giving a reliable picture of the whole phylogenetic variability of the species. The profiles observed with the enzymes Hinf I and Hae III were linked together and supported the existence of two groups. Group 1 shows a 195 bp repeated unit (Hinf I) and high molecular weight DNA (Hae III), while group 2 presents a ladder profile for each enzyme, which is a characteristic of tandemly repeated DNA. The two groups, respectively, clustered stocks pertaining to the two principal lineages evidenced by isoenzyme and RAPD markers. The congruence among these three independent genomic markers corroborates the existence of two real phylogenetic lineages in T. cruzi. The specific monomorphic profiles for each major phylogenetic lineage suggest the existence of ancient sexuality and cryptic biological speciation.

Neuro-developmental follow-up of neonates treated with magnesium sulfate for persistent pulmonary hypertension

Rapport de synthèse : DEVENIR NEURO-DEVELOPPEMENTAL DE NOUVEAU-NES TRAITES PAR DU SULFATE DE MAGNESIUM POUR UNE HYPERTENSION PULMONAIRE PERSISTANTE L'hypertension pulmonaire persistante du nouveau-né (HTPP) est un trouble de l'adaptation post-natale de la circulation pulmonaire caractérisé par une défaillance de la diminution normale des résistances vasculaires pulmonaires, accompagné d'un shunt droite-gauche, résultant en une hypoxémie profonde. C'est une pathologie sévère nécessitant des soins intensifs avec un risque augmenté de handicaps neurologiques chez les survivants. Le traitement de l'HTPP du nouveau-né inclut une ventilation mécanique ainsi que différents agents pharmacologiques pour dilater les vaisseaux pulmonaires, dont le sulfate de magnésium (MgSO4) à hautes doses par voie intraveineuse et le monoxyde d'azote par voie inhalée (iN0). Le MgSO4 est une alternative thérapeutique de l'HTPP du nouveau-né avec peu d'effets secondaires et une mortalité basse. Il a aussi été démontré que le MgSO4 est un traitement de l'HTPP du nouveau-né autant efficace que le iN0 et moins coüteux. Des études sur le suivi neuro-développemental de nouveau-nés avec HTPP traités selon différentes méthodes ont été publiées reportant des taux élevés de handicaps majeurs et mineurs. Plus récemment, des études de suivi après traitement par iN0 ont montré des taux plus bas qu'avec des traitements antérieurs. Le devenir neuro-développemental àlong terme d'enfants traités avec du MgSO4 n'a pas été documenté. Le but de cette étude est de décrire le développement des enfants qui ont présenté une HTPP traitée seulement avec du MgS04, de reporter l'incidence de handicaps majeurs et mineurs, et de les comparer à un groupe contrôle d'enfants sains du même âge ainsi qu'aux données de la littérature. La population consiste en 33 nouveau-nés traités pour une HTPP avec seulement du MgSO4 (groupe étude) et 32 nouveau-nés à terme sains (groupe contrôle). Un suivi neurodéveloppemental standardisé et approfondi a été effectué aux âges clés de 18 mois et 5 ans. Les taux de handicaps majeurs à 18 mois et 5 ans dans le groupe étude étaient de 6% et 11,4% respectivement, et de 0% aux deux âges dans le groupe contrôle. Les taux de handicaps mineurs aux mêmes âges étaient de 3% et 26,9% pour le groupe étude, et de 0% et 26,1% pour le groupe contrôle. Les quotients développementaux moyens à 18 mois étaient de 106,6 (DS 1,6) dans le groupe étude et de 118,3 (DS 1,0) dans le groupe contrôle (P < 0,001). L'index général intellectuel en âge préscolaire était de 112.6 (DS 3.7), respectivement de 119.3 (DS 3.1 ), sans différence significative entre les deux groupes. A 18 mois, les taux de handicaps majeurs et mineurs dans les groupes études et contrôle étaient de 6% et 3%. Dans la littérature, des taux entre 0% et 33% ont été décrits. A cet âge, il y avait une différence significative pour tous les scores du test de Griffiths, mëme en tenant compte du status socio-économique de la famille. Ceci suggère un léger retard du développement global et non une altération spécifique. Ces différences n'étaient plus significatives en âge préscolaire, suggérant un rattrapage développemental. Le taux de handicaps majeurs en âge préscolaire pour le groupe étude était de 11.5%, sans aucune infirmité motrice cérébrale. Ces résultats correspondent à ceux d'études de suivi après d'autres traitements jusqu'à l'âge de 24 mois avec des taux variant de 0% à 15%. Le taux de handicaps mineurs était de 26.9% dans le groupe étude et de 26.1% dans le groupe contrôle, sans différence significative entre les deux groupes. L'incidence de handicaps mineurs dans le groupe étude était plutôt élevée en comparaison aux données de la littérature (6 à 22% à 6 ans). Une explication possible est que nous avons considéré des problèmes de langage et de comportement comme handicaps mineurs. Ceci suggère une différence méthodologique et non une plus mauvaise issue dans nos deux groupes. Les évaluations cognitives des enfants des deux groupes se trouvaient dans la norme, ce qui est aussi le cas dans la littérature. En conclusion, cette étude longitudinale non randomisée d'enfants traités avec du MgSO4 seul pour une HTPP sévère ne montre pas de conséquences sur le devenir neuro-développemental à long terme. Cette étude le démontre pour la première fois. Malgré le fait que iN0 soit le traitement actuellement recommandé pour l'HTPP du nopuveau-né, le MgSO4 reste largement utilisé, en particulier dans des pays en voie de développement. L'absence de complications neuro-développementales majeures à long terme permet de considérer l'administration du MgSO4 pour le traitement de l'HTPP du nouveau-né en cas de non réponse ou d'inaccessibilité au iNO.

El pop y el rock como productos de gran consumo: Los Beatles como marca

El treball final de carrera El pop i el rock com a productes de gran consum: els Beatles com a marca, té l’objectiu de demostrar la dimensió del màrketing en el cas dels Beatles. Primerament exposa la evolució dels gèneres musicals i dels compositors i grups més influents de la música pop i rock. Seguidament una breu contextualització dels Beatles, per posteriorment abordar l’objectiu principal del projecte, el qual pretén demostrar que el conjunt de Liverpool va ser una gran marca nascuda de la barreja d’estils musicals i del consumisme.

Variability of gait patterns during unconstrained walking assessed by satellite positioning (GPS).

It is established that the ratio between step length (SL) and step frequency (SF) is constant over a large range of walking speed. However, few data are available about the spontaneous variability of this ratio during unconstrained outdoor walking, in particular over a sufficient number of steps. The purpose of the present study was to assess the inter- and intra-subject variability of spatio-temporal gait characteristics [SL, SF and walk ratio (WR=SL/SF)] while walking at different freely selected speeds. Twelve healthy subjects walked three times along a 100-m athletic track at: (1). a slower than preferred speed, (2). preferred speed and (3). a faster than preferred speed. Two professional GPS receivers providing 3D positions assessed the walking speed and SF with high precision (less than 0.5% error). Intra-subject variability was calculated as the variation among eight consecutive 5-s samples. WR was found to be constant at preferred and fast speeds [0.41 (0.04) m.s and 0.41 (0.05) m.s respectively] but was higher at slow speeds [0.44 (0.05) m.s]. In other words, between slow and preferred speed, the speed increase was mediated more by a change in SF than SL. The intra-subject variability of WR was low under preferred [CV, coefficient of variation = 1.9 (0.6)%] and fast [CV=1.8 (0.5)%] speed conditions, but higher under low speed condition [CV=4.1 (1.5)%]. On the other hand, the inter-subject variability of WR was 11%, 10% and 12% at slow, preferred and fast walking speeds respectively. It is concluded that the GPS method is able to capture basic gait parameters over a short period of time (5 s). A specific gait pattern for slow walking was observed. Furthermore, it seems that the walking patterns in free-living conditions exhibit low intra-individual variability, but that there is substantial variability between subjects.

Solitary fibrous tumor of the lateral ventricle: CT appearances and pathologic correlation with follow-up.

Intracranial solitary fibrous tumors are rare, and intraventricular fibrous tumors are even more unusual. We report a case of solitary fibrous tumor in the region of trigone and body of the left lateral ventricle and discuss the clinical presentation, CT characteristics, and histopathologic features with 1-year follow-up. We speculate that the tumor arose from the perivascular connective tissue of the choroid plexus.

Obesity Weighting up the Evidence: All-Island Multisectoral Conference on Obesity

The World Health Organization reports that overweight and obesity have reached epidemic proportions globally and estimates that approximately 1.6 billion adults and at least 20 million children under the age of five are overweight or obese. It is accepted that being overweight or obese increases the risk of health conditions such as heart disease, stroke, diabetes and some cancers and has significant impacts on a wide range of other factors including education, employment and emotional wellbeing. This conference aimed to present a multisectoral audience with the latest developments in overweight and obesity prevention and management. This presentation was given by Dr. Kevin Balanda, Institute of Public Health in Ireland. The Institute of Public Health in Ireland (IPH) is leading the development of an All-Ireland obesity observatory The obesity observatory development is being undertaken in collaboration with: - HRB Centre for Health and Diet Research ﾖ UCC /UCD - Centre of Excellence for Public Health (NI) - QUB Projected outcomes: Adequate sample size Data to be sought and recorded Usefulness of a database in influencing policy Value to clinicians in management of obesity

Levelling up - Securing Health Improvement by Promoting Social Inclusion

Levelling up - Securing Health Improvement by Promoting Social Inclusion - A Cross Border Action Plan for the North West of Ireland  Vision - The aim of 'Levelling Up' is to work towards a society where all voices are heard, where the vulnerable and those on the margins are supported to be involved and in which plans developed for the people are shaped by the people. Their vision is of a region in which organisations and politicians actively demonstrate a commitment to equity – equity both within the North West and between the North West and the rest of Ireland North and South.

The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature.

Fabry disease is caused by a deficiency of a-galactosidase A which leads to the progressive intra-lysosomal accumulation of ceramide trihexoside (CTH), also known as globotriaosylceramide (Gb3), in different cell types and body fluids. The clinical manifestations are multisystemic and predominantly affect the heart, kidney and central nervous system. The role of CTH in the pathophysiological process of Fabry disease is not established, and the link between the degree of accumulation and disease manifestations is not systematic. The use of CTH as a diagnostic tool has been proposed for several decades. The recent introduction of a specific treatment for Fabry disease in the form of enzyme replacement therapy (ERT) has led to the need for a biological marker, in place of a clinical sign, for evaluating the efficacy of treatment and also as a tool for following the long term effects of treatment. The ideal biomarker must adhere to strict criteria, and there should be a correlation between the degree of clinical efficacy of treatment and a change in its concentration. This review of the literature assesses the utility of CTH as a diagnostic tool and as a marker of the efficacy of ERT in patients with Fabry disease. Several techniques have been developed for measuring CTH; the principles and the sensitivity thresholds of these methods and the units used to express the results should be taken into consideration when interpreting data. The use of CTH measurement in Fabry disease should be re-evaluated in light of recent published data.

Shooting up 2009 revised final

Shooting Up Infections among injecting drug users in the united Kingdom 2008 - An update 2009