Pompe disease diagnosis and management guideline

ACMG standards and guidelines are designed primarily as an educational resource for physicians and other health care providers to help them provide quality medical genetic services. Adherence to these standards and guidelines does not necessarily ensure a successful medical outcome. These standards and guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. in determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from these standards and guidelines.Duke Univ, Med Ctr, Durham, NC 27706 USAOregon Hlth Sci Univ, Portland, OR 97201 USANYU, Sch Med, New York, NY USAUniv Florida, Coll Med, Powell Gene Therapy Ctr, Gainesville, FL 32611 USAIndiana Univ, Bloomington, in 47405 USAUniv Miami, Miller Sch Med, Coral Gables, FL 33124 USAHarvard Univ, Childrens Hosp, Sch Med, Cambridge, MA 02138 USAUniversidade Federal de São Paulo, São Paulo, BrazilColumbia Univ, New York, NY 10027 USANYU, Bellevue Hosp, Sch Med, New York, NY USAColumbia Univ, Med Ctr, New York, NY 10027 USAUniversidade Federal de São Paulo, São Paulo, BrazilWeb of Scienc

Of mice and masks : how performing citizenship worked for a thousand years in the Venetien Republic and why the Age of Enlightenment brought it to an abupt end

While the plague raged in the 14th century, eradicating numerous patrician families, who used to keep the Maritime Republic alive with its unique system of office rotation and power distribution, the Venetians invented their endangered community and polity anew–with the help of a uniform white mask (larva or volto), a black hood and a three-pointed hat. Presumably, this so-called bautà was first borne out of protest against the Black Death, that killed rich and poor without exception. But soon it developed into a powerful institution of social compensation. It permitted the Venetian Republic to regard its own police and spy state as necessary to fight corruption, but also allowed its citizen to lead a comparatively untroubled life beyond convention and constraints. As a social mask, the bautà grew in popularity between the 14th and 18th century, and can be seen on countless Canaletto paintings, at almost every public occasion. But above all it revolutionized social life by allowing a simple form of anonymisation. It guaranteed Venetian citizens of both sexes libertine, even voluptuous practices while respecting etiquette. This mask reflects the richness of the Venetian social and political inventions. The Venetians did not believe in the good of man, one of the reasons why the Republic would survive thousand years of crusades and slaughter but not the century of enlightenment. Instead, the Venetians believed in institutions, in healing restrictions they would impose on unwelcomed human behaviour. They broke their heads over procedures that would prevent human beings to choose the easy way. Acknowledging the fact, that destroying and doing harm is simple in comparison to the difficulties of re-installing trust and credibility, they invented sophisticated practices and countless precautions, from which they expected more benefits and practical wisdom than from weak, only too corruptible human beings. The success of Venetian Republic depended on its profound pessimism, its distrust in human goodness. Instead of wanting to change the nature of man, e.g. by self-eclaration, it created a system of procedural inventions and institutional coups, which counteracted abuse and corruption like a corset fighting formlessness. Control and freedom of movement, spying, libertinage, and veneration were no opposites for the citizens of Venice, but rather reciprocal fires, to express their unique concept of performing citizenship adequately.Hambur

Fatigue crack initiation in nickel-based superalloys studied by microstructure-based FE modeling and scanning electron microscopy

In this work stage I crack initiation in polycrystalline nickel-based superalloys is investigated by analyzing anisotropic mechanical properties, local stress concentrations and plastic deformation on the microstructural length scale. The grain structure in the gauge section of fatigue specimens was characterized by EBSD. Based on the measured data, a microstructure-based FE model could be established to simulate the strain and stress distribution in the specimens during the first loading cycle of a fatigue test. The results were in fairly good agreement with experimentally measured local strains. Furthermore, the onset of plastic deformation was predicted by identifying shear stress maxima in the microstructure, presumably leading to activation of slip systems. Measurement of plastic deformation and observation of slip traces in the respective regions of the microstructure confirmed the predicted slip activity. The close relation between micro-plasticity, formation of slip traces and stage I crack initiation was demonstrated by SEM surface analyses of fatigued specimens and an in-situ fatigue test in a large chamber SEM