Creatine and guanidinoacetate reference values in a French population

Creatine and guanidinoacetate are biomarkers of creatine metabolism. Their assays in body fluids may be used for detecting patients with primary creatine deficiency disorders (PCDD), a class of inherited diseases. Their laboratory values in blood and urine may vary with age, requiring that reference normal values are given within the age range. Despite the long known role of creatine for muscle physiology, muscle signs are not necessarily the major complaint expressed by PCDD patients. These disorders drastically affect brain function inducing, in patients, intellectual disability, autistic behavior and other neurological signs (delays in speech and language, epilepsy, ataxia, dystonia and choreoathetosis), being a common feature the drop in brain creatine content. For this reason, screening of PCDD patients has been repeatedly carried out in populations with neurological signs. This report is aimed at providing reference laboratory values and related age ranges found for a large scale population of patients with neurological signs (more than 6 thousand patients) previously serving as a background population for screening French patients with PCDD. These reference laboratory values and age ranges compare rather favorably with literature values for healthy populations. Some differences are also observed, and female participants are discriminated from male participants as regards to urine but not blood values including creatine on creatinine ratio and guanidinoacetate on creatinine ratio values. Such gender differences were previously observed in healthy populations; they might be explained by literature differential effects of testosterone and estrogen in adolescents and adults, and by estrogen effects in prepubertal age on SLC6A8 function. Finally, though they were acquired on a population with neurological signs, the present data might reasonably serve as reference laboratory values in any future medical study exploring abnormalities of creatine metabolism and transport

Cystinosis: practical tools for diagnosis and treatment

Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and signs of renal proximal tubular damage. The diagnosis can be missed in infants, because not all signs of renal Fanconi syndrome are present during the first months of life. In older patients cystinosis can mimic idiopathic nephrotic syndrome due to focal and segmental glomerulosclerosis. Measuring elevated white blood cell cystine content is the corner stone for the diagnosis. The diagnosis is confirmed by molecular analysis of the cystinosin gene. Corneal cystine crystals are invariably present in all patients with cystinosis after the age of 1 year. Treatment with the cystine depleting drug cysteamine should be initiated as soon as possible and continued lifelong to prolong renal function survival and protect extra-renal organs. This educational feature provides practical tools for the diagnosis and treatment of cystinosis

Algorithms for the diagnosis and treatment of restless legs syndrome in primary care

<p>Abstract</p> <p>Background</p> <p>Restless legs syndrome (RLS) is a neurological disorder with a lifetime prevalence of 3-10%. in European studies. However, the diagnosis of RLS in primary care remains low and mistreatment is common.</p> <p>Methods</p> <p>The current article reports on the considerations of RLS diagnosis and management that were made during a European Restless Legs Syndrome Study Group (EURLSSG)-sponsored task force consisting of experts and primary care practioners. The task force sought to develop a better understanding of barriers to diagnosis in primary care practice and overcome these barriers with diagnostic and treatment algorithms.</p> <p>Results</p> <p>The barriers to diagnosis identified by the task force include the presentation of symptoms, the language used to describe them, the actual term "restless legs syndrome" and difficulties in the differential diagnosis of RLS.</p> <p>Conclusion</p> <p>The EURLSSG task force reached a consensus and agreed on the diagnostic and treatment algorithms published here.</p

Déformations néotectoniques dans les dépôts plio-quaternaires de la région de Casablanca-Mohammedia (Meseta côtière, Maroc)

10 páginas, 5 figuras, 1 tabla.-- Trabajo presentado en: The Atlantic Neogene in the XXIth Century: State of The Art.[FR] La bande littorale atlantique de la Meseta marocaine montre dans la région de Casablanca- Mohammedia des dépôts plio-quaternaires qui résultent de plusieurs transgressions marines. Ces formations sont organisées chacune en terrasse marine progradante déposée pendant une période de régression. Ces dépôts marins sont couverts d éolianites qui sont associés aux cordons dunaires plus ou moins parallèles à la côte actuelle. L analyse tectonique de ces dépôts plio-quaternaires révèle que la région d étude, qui était considérée comme étant une zone stable, a enregistré plusieurs déformations cassantes récentes (décrochements, failles normales et diaclases). Il s avère ainsi, que les dépôts plio-quaternaires ont été affectés au moins par deux phases compressives et une phase distensive. Cette tectonique récente peut être liée à la propagation vers l avant-pays de la déformation due à la convergence NW-SE Afrique-Europe et à la progression récente vers le SW du Rif et de son bassin d avant fosse du Saïss-Rharb.[ES] La banda litoral atlántica de la Meseta marroquí septentrional, en la región de Casablanca- Mohammedia, muestra depósitos plio-cuaternarios progradantes como resultado de varias transgresiones marinas. Estos depósitos corresponden a secuencias regresivas y están asociados a terrazas marinas. Las formaciones marinas están recubiertas por depósitos eólicos relacionados con cordones dunares aproximadamente paralelos a la línea de costa. El estudio neotectónico de los depósitos plio-cuaternarios ha permitido precisar la edad de las deformaciones recientes, mostrando que la región estudiada, que había sido considerada como una zona estable, ha registrado varias deformaciones frágiles (fallas normales, desgarres y diaclasas). Estas deformaciones indican que los depósitos plio-cuaternarios han sido afectados al menos por dos fases compresivas y una fase distensiva. La tectónica reciente de la región puede estar ligada a la propagación hacia el antepaís de los esfuerzos asociados a la convergencia NW-SE entre Africa y Europa, y a las deformaciones recientes de vergencia SW del Rif y de la fosa de antepaís de Saïss-Rharb.Ce travail a été financé par la Agencia Española de Cooperación Internacional et la Consejería de Presidencia de la Junta de Andalucía.Peer reviewe

Applied Photoelasticity for Residual Stress Measurement inside Crystal Silicon Wafers for Solar Applications

International audienceAbstract A full automated NIR polariscope has been specially built for residual stress measurement in crystal silicon wafers for solar applications. The multiple configurations of the instrument allow measuring both the isoclinic and the isochromatic parameters on a full field. A new algorithm has also been developed to extract the maximal shear stress inside the silicon wafers without linking the isoclinic parameter to the isochromatic parameter. Hence, it is straightforward to use and the extraction errors are reduced. Coupling this improved data analysis with the comprehensive capabilities of the test rig, allowed to show that the effect of the cutting process on the residual stress inside the silicon wafers is predominant compared with the effect of the cast process, related to the thermal gradient and impurities

Quartz crystal microbalance and evaporation of sessile droplets

A quartz crystal microbalance and dissipation simultaneously measuring the frequency and the dissipation over more than one decade, from fundamental to overtone 15, is used to investigate the evaporation mechanisms of small water sessile droplets onto a gold surface. An unexpected weak increase in frequency is observed during the first stage of evaporation where the contact line is pinned while the dissipation is unchanged. The increase in frequency has a linear dependence with the overtone order so it is related to a very thin amount of water. A droplet deposited inside a circular barrier does not exhibit such a variation suggesting that the observed effect is related to the region in the vicinity of the edge of the droplet