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3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is an inborn error of serine biosynthesis. Patients are affected with congenital microcephaly, psychomotor retardation, and intractable seizures. The effects of oral treatment with amino acids were investigated in 2 siblings. L-Serine up to 500 mg/kg/day was not sufficient for seizure control. Addition of glycine 200 mg/kg/day resulted in comple

Vein of Galen malformation is a rare intracranial disorder in newborns. In recent years the survival rate has improved due to improvement in endovascular treatment of this abnormality. We describe three neonates with a vein of Galen malformation for whom treatment was not attempted because of associated severe cerebral damage, of antenatal origin in two and of perinatal origin in the other. Autops

Three mentally retarded male patients, 24, 30 and 14 years old, died from acute gastric dilatation leading to rupture and perforation. Superior mesenteric artery syndrome (SMA) was the cause of gastric dilatation in two of them. In the third patient the cause was not clear. The three patients had scoliosis and were underweight or thin. Two had spastic quadriplegia of perinatal origin and one had D

Benign recurrent intrahepatic cholestasis (BRIC) is a rare disorder characterized by recurrent episodes of cholestasis without permanent liver damage. Familial and sporadic cases have been described. Based on existing evidence, both autosomal-recessive and autosomal-dominant inheritance have been considered. We describe a large Dutch pedigree with 4 patients, strongly suggesting autosomal-recessiv

The emergence of financial institutions such as the exchanges or bourses of northern Europe in the sixteenth and the seventeenth centuries made possible the emergence of speculation in financial instruments. Speculation evolved into a game with its own logic, and the implied ethos of the speculator prioritised abstract notions and self-interest.This article investigates the relation between this e

Urbane design concerns itself with promoting thequalities associated with the urban – dynamism, transversal networks, etc. – in places where these do not(yet) exist. Urbane design can be considered a neoliberal off-shoot of ‘urban curating’ and other contemporary forms of extending architectural practice intothe social realm. The urbane designer is the creativemanager of the creative city, whose s

Whatever happened to cybernetics in architecture? Cybernetics was swaggering from day one. Its original mission, to predict the evasive manoeuvres of bomber pilots, soon evolved into making predictions in social systems and game theory. In the early 1960s, cybernetics began to make inroads into architecture, famously so in the never-realised Fun Palace, designed by architect Cedric Price, theatre

We present Titta, an open-source toolbox for controlling eye trackers manufactured by Tobii AB from MATLAB and Python. The toolbox provides a wrapper around the Tobii Pro SDK, providing a convenient graphical participant setup, calibration and validation interface implemented using the PsychToolbox and PsychoPy toolboxes. The toolbox furthermore enables MATLAB and Python experiments to communicate

Living systems integrate biochemical reactions that determine the functional state of each cell. Reactions are primarily mediated by proteins. In proteomic studies, these have been treated as independent entities, disregarding their higher-level organization into complexes that affects their activity and/or function and is thus of great interest for biological research. Here, we describe the imple