The Obliteration of Truth by Management: Badiou, St. Paul and the Question of Economic Managerialism in Education

This paper considers the questions that Badiou’s theory of the subject poses to cultures of economic managerialism within education. His argument that radical change is possible, for people and the situations they inhabit, provides a stark challenge to the stifling nature of much current educational climate. In 'Saint Paul: The Foundation of Universalism', Badiou describes the current universalism of capitalism, monetary homogeneity and the rule of the count. Badiou argues that the politics of identity are all too easily subsumed by the prerogatives of the marketplace and unable to present, therefore, a critique of the status quo. These processes are, he argues, without the potential for truth. What are the implications of Badiou’s claim that education is the arranging of ‘the forms of knowledge in such a way that truth may come to pierce a hole in them’ (Badiou, 2005, p. 9)? In this paper, I argue that Badiou’s theory opens up space for a kind of thinking about education that resists its colonisation by cultures of management and marketisation and leads educationalists to consider the emancipatory potential of education in a new light

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

INTRODUCTION: This study aims to define the phenotypic and molecular spectrum of the two clinical forms of β-galactosidase (β-GAL) deficiency, GM1-gangliosidosis and mucopolysaccharidosis IVB (Morquio disease type B, MPSIVB). METHODS: Clinical and genetic data of 52 probands, 47 patients with GM1-gangliosidosis and 5 patients with MPSIVB were analysed. RESULTS: The clinical presentations in patients with GM1-gangliosidosis are consistent with a phenotypic continuum ranging from a severe antenatal form with hydrops fetalis to an adult form with an extrapyramidal syndrome. Molecular studies evidenced 47 variants located throughout the sequence of the GLB1 gene, in all exons except 7, 11 and 12. Eighteen novel variants (15 substitutions and 3 deletions) were identified. Several variants were linked specifically to early-onset GM1-gangliosidosis, late-onset GM1-gangliosidosis or MPSIVB phenotypes. This integrative molecular and clinical stratification suggests a variant-driven patient assignment to a given clinical and severity group. CONCLUSION: This study reports one of the largest series of b-GAL deficiency with an integrative patient stratification combining molecular and clinical features. This work contributes to expand the community knowledge regarding the molecular and clinical landscapes of b-GAL deficiency for a better patient management

Close encounters of a critical kind: a diffractive musing in/between new material feminism and object-oriented ontology

For a number of years, new material feminists have been developing new theoretical tools, new modes of conceptual analysis and new ethical frameworks. Object-oriented ontology, part of the speculative realism ‘movement’, has been engaged in something similar. Yet these endeavours have often taken place in ‘parallel universes’, despite sharing – or at least colliding around – a range of somewhat similar ontological and epistemological commitments. Composed as a diffractive musing encounter in which insights are read ‘through one another’ (Barad, 2007: 25) in order to ‘attend to … details and specificities of relations of difference and how they matter’ (Barad, 2007:71), the article brings Barad’s Meeting the Universe Halfway, already a ‘foundational’ text for new material feminism, into an encounter with a speculative realist text of the same ‘foundational’ status, Harman’s The Quadruple Object. The article develops a notion of diffractive musing as embodied, sensory struggle which instantiates intellectual generosity as a mode of critique. Following this, it puts diffractive musing to work theoretically via an encounter between object-oriented ontology and new material feminism. Keywords : new material feminism, speculative realism, diffraction, musing, critiqu

Amino acid synthesis deficiencies

In recent years the number of disorders known to affect amino acid synthesis has grown rapidly. Nor is it just the number of disorders that has increased: the associated clinical phenotypes have also expanded spectacularly, primarily due to the advances of next generation sequencing diagnostics. In contrast to the "classical" inborn errors of metabolism in catabolic pathways, in which elevated levels of metabolites are easily detected in body fluids, synthesis defects present with low values of metabolites or, confusingly, even completely normal levels of amino acids. This makes the biochemical diagnosis of this relatively new group of metabolic diseases challenging. Defects in the synthesis pathways of serine metabolism, glutamine, proline and, recently, asparagine have all been reported. Although these amino acid synthesis defects are in unrelated metabolic pathways, they do share many clinical features. In children the central nervous system is primarily affected, giving rise to (congenital) microcephaly, early onset seizures and varying degrees of mental disability. The brain abnormalities are accompanied by skin disorders such as cutis laxa in defects of proline synthesis, collodion-like skin and ichthyosis in serine deficiency, and necrolytic erythema in glutamine deficiency. Hypomyelination with accompanying loss of brain volume and gyration defects can be observed on brain MRI in all synthesis disorders. In adults with defects in serine or proline synthesis, spastic paraplegia and several forms of polyneuropathy with or without intellectual disability appear to be the major symptoms in these late-presenting forms of amino acid disorders. This review provides a comprehensive overview of the disorders in amino acid synthesis

Transtemporal-transchoroidal approach and its transamygdala extension to the posterior chiasmatic cistern and diencephalo-mesencephalic lesions

The aim of this report is to illustrate the successful surgical management of five patients with suprasellar retrochiasmatic and diencephalo-mesencephalic tumours, using a trans-amygdala extension of the trans-temporal/trans-choroidal fissure approach.The procedure is described for five surgically treated patients with such lesions that includes three retrochiasmatic craniopharyngiomas, one hypothalamic hamartoma, and one pilocytic astrocytoma in the left crus cerebri. The management procedure included computed tomography scan (CT scan) and magnetic resonance imaging (MRI). The trans-temporal/trans-choroidal fissure approach enabled us to perform total tumour resection in four patients and a subtotal resection in one. Some technical aspects and pitfalls of the procedure are discussed.This method creates optimum conditions for a radical excision of various suprasellar retrochiasmatic and diencephalo-mesencephalic tumours without mortality and only minimum morbidity. However, no single surgical approach can provide access to the entire variety of tumours located in the suprasellar retrochiasmatic and diencephalo-mesencepalic region. Surgical approaches must be tailored to the site, type of lesion, and its extensions. This method is only another surgical option. Its successful use requires a familiarity with the anatomy of these regions and an understanding of its specificity for a radical excision of some selected tumours, as well as its limitations to access others types of lesions. Although, it seems effective, this approach needs to be evaluated by further experience, owing to the small number of patients reported in this series

Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency

Lipoic acid metabolism defects are new metabolic disorders that cause neurological, cardiomuscular or pulmonary impairment. We report on a patient that presented with progressive neurological regression suggestive of an energetic disease, involving leukoencephalopathy with cysts. Elevated levels of glycine in plasma, urine and CSF associated with intermittent increases of lactate were consistent with a defect in lipoic acid metabolism. Support for the diagnosis was provided by pyruvate dehydrogenase deficiency and multiple mitochondrial respiratory chain deficiency in skin fibroblasts, as well as no lipoylated protein by western blot. Two mutations in the NFU1 gene confirmed the diagnosis. The p.Gly208Cys mutation has previously been reported suggesting a founder effect in Europe

Transition in health care from childhood to adulthood (TCA) for lysosomal diseases patients in France. Current state and priorities : The TENALYS study

International audienc

Two new cases of serine deficiency disorders treated with l-serine

OBJECTIVE AND PATIENTS: We report on two new cases of serine deficiency due respectively to 3-phosphoglycerate dehydrogenase (PHGDH) deficiency (Patient 1) and phosphoserine aminotransferase (PSAT1) deficiency (Patient 2), presenting with congenital microcephaly (<3rd centile at birth) and encephalopathy with spasticity. Patient 1 had also intractable seizures. A treatment with oral l-serine was started at age 4.5 years and 3 months respectively. RESULTS: Serine levels were low in plasma and CSF relative to the reference population, for which we confirm recently redefined intervals based on a larger number of samples. l-Serine treatment led in patient 1 to a significant reduction of seizures after one week of treatment and decrease of electroencephalographic abnormalities within one year. In patient 2 treatment with l-serine led to an improvement of spasticity. However for both patients, l-serine failed to improve substantially head circumference (HC) and neurocognitive development. In a couple related to patient's 2 family, dosage of serine was performed on fetal cord blood when the fetus presented severe microcephaly, showing reduced serine levels at 30 weeks of pregnancy. CONCLUSIONS: l-Serine treatment in patients with 2 different serine synthesis defects, led to a significant reduction of seizures and an improvement of spasticity, but failed to improve substantially neurocognitive impairment. Therefore, CSF and plasma serine levels should be measured in all cases of severe microcephaly at birth to screen for serine deficiency, as prompt treatment with l-serine may significantly impact the outcome of the disease. Reduced serine levels in fetal cord blood may also be diagnostic as early as 30 weeks of pregnancy

Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles

International audienceClassical neonatal-onset glutaric aciduria type 2 (MAD deficiency) is a severe disorder of mitochondrial fatty acid oxidation associated with poor survival. Secondary dysfunction of acyl-CoA dehydrogenases may result from deficiency for riboflavin transporters, leading to severe disorders that, nevertheless, are treatable by riboflavin supplementation. In the last 10 years, we identified nine newborns with biochemical features consistent with MAD deficiency, only four of whom survived past the neonatal period. A likely iatrogenic cause of riboflavin deficiency was found in two premature newborns having parenteral nutrition, one of whom recovered upon multivitamin supplementation, whereas the other died before diagnosis. Four other patients had demonstrated mutations involving ETF or ETF-DH flavoproteins, whereas the remaining three patients presumably had secondary deficiencies of unknown mechanism. Interestingly, six newborns among the seven tested for plasma amino acids had pronounced hyperprolinemia. In one case, because the initial diagnostic workup did not include organic acids and acylcarnitine profiling, clinical presentation and hyperprolinemia suggested the diagnosis. Analysis of our full cohort of \textgreater50,000 samples from \textgreater30,000 patients suggests that the proline/alanine ratio may be a good marker of MAD deficiency and could contribute to a more effective management of the treatable forms