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Robert M.,pital University des Enfants Reine Fabiola | van Rijn M.,University of Groningen | Ahring K.,Copenhagen University | MacDonald A.,The Childrens Hospital | And 5 more authors.
Molecular Genetics and Metabolism | Year: 2013

Patients with phenylketonuria (PKU) encompass an 'at risk' group for micronutrient imbalances. Optimal nutrient status is challenging particularly when a substantial proportion of nutrient intake is from non-natural sources. In PKU patients following dietary treatment, supplementation with micronutrients is a necessity and vitamins and minerals should either be added to supplement phenylalanine-free l-amino acids or given separately. In this literature review of papers published since 1990, the prevalence of vitamin and mineral deficiency is described, with reference to age of treatment commencement, type of treatment, dietary compliance, and dietary practices. Biological micronutrient inadequacies have been mainly reported for zinc, selenium, iron, vitamin B12 and folate. The aetiology of these results and possible clinical and biological implications are discussed. In PKU there is not a simple relationship between the dietary intake and nutritional status, and there are many independent and interrelated complex factors that should be considered other than quantitative nutritional intake. © 2013 Elsevier Inc. Source


Lammardo A.M.,University of Milan | Robert M.,pital University des Enfants Reine Fabiola | van Rijn M.,University of Groningen | Ahring K.,Kennedy Institute | And 5 more authors.
Molecular Genetics and Metabolism | Year: 2013

For almost all patients with PKU, a low phenylalanine diet is the basis of the treatment despite a widely varying natural protein tolerance. A vitamin and mineral supplement is essential and it is commonly added to a phenylalanine-free (phe-free) source of l-amino acids. In PKU, many phe-free l-amino acid supplements have age-specific vitamin and mineral profiles to meet individual requirements. The main micronutrient sources are chemically derived and their delivery dosage is usually advised in three or more doses throughout the day. Within the EU, the composition of VM (vitamin and mineral) phe-free l-amino acid supplements is governed by the Foods for Special Medical Purposes (FSMP) directive (European Commission Directive number 1999/21/EC and amended by Directive 2006/141/EC). However the micronutrient composition of the majority fails to remain within FSMP micronutrient maximum limits per 100. kcal due to their low energy content and so compositional exceptions to the FSMP directive have to be granted for each supplement. All patients with PKU require an annual nutritional follow-up, until it has been proven that they are not at risk of any vitamin and mineral imbalances. When non-dietary treatments are used to either replace or act as an adjunct to diet therapy, the quality of micronutrient intake should still be considered important and monitored systematically. European guidelines are required about which micronutrients should be measured and the conditions (fasting status) for monitoring. © 2013 Elsevier Inc. Source


Faraoni D.,pital University des Enfants Reine Fabiola | Carlier C.,pital University des Enfants Reine Fabiola | Samama C.M.,Service danesthesie reanimation | Levy J.H.,Duke University | Ducloy-Bouthors A.S.,Service danesthesie reanimation
Annales Francaises d'Anesthesie et de Reanimation | Year: 2014

Objective(s): Assess the efficacy and safety of tranexamic acid administration for the prevention and/or the treatment of postpartum haemorrhage. Study design: Systematic review with meta-analysis. Material and methods: Systematic review of the literature with the aim of identifying prospective, randomised, controlled trials that assessed the effect of tranexamic acid on peripartum blood loss and transfusion requirement in three clinical contexts: (i) prevention of post-partum haemorrhage in case of elective caesarean section, (ii) prevention of post-partum haemorrhage in case of vaginal delivery, (iii) treatment of post-partum haemorrhage. Results: Prophylactic administration of tranexamic acid reduced blood loss (mean difference for intraoperative blood loss: -177.9 mL, IC 95%: -189.51 to -166.35, total blood loss: -183.94, IC 95%: -198.29 to -169.60), and the incidence of severe post-partum haemorrhage (OR: 0.49, IC 95%: 0.33 to 0.74) None of the published trials assessed the effect of tranexamic acid on blood products administration or transfusion requirement. Only one study assessed and reported the efficacy of tranexamic acid when administered as a treatment for postpartum haemorrhage. A significant reduction in blood loss was reported within 30. minutes after randomisation (P= 0.03) and confirmed after 6 hours (median: 170 mL (58-323) vs 221 mL (110-543), P= 0.04). None of the included studies adequately studied the incidence of side effects after tranexamic acid administration. Conclusion: Although tranexamic acid administration seemed to significantly reduce blood loss and the incidence of severe post-partum haemorrhage, further prospective trials are needed to confirm the efficacy and safety of tranexamic administration in the treatment of postpartum haemorrhage. Those studies should assess the pharmacokinetic profile and the safety of this drug in pregnant women. © 2014 Société française d'anesthésie et de réanimation (Sfar). Source


Andre J.,University Hospitals Saint Pierre | Andre J.,University Hospital Brugmann | Andre J.,pital University des Enfants Reine Fabiola | Andre J.,Free University of Colombia | And 3 more authors.
Clinics in Dermatology | Year: 2013

When dealing with nails, pathologic examination is often indispensable to reach an accurate diagnosis. This requires a biopsy correctly performed by the dermatologist, a specimen correctly handled in the pathology lab, and a pathologist with good knowledge of the various nail conditions. The normal nail histology is first described in this paper. The pathologic aspects of melanocytic lesions, nonmelanocytic tumors of the nail apparatus, inflammatory nail conditions, and onychomycosis are then considered, together with their main differential diagnoses. © 2013 Elsevier Inc. Source


Rice G.I.,University of Manchester | Forte G.M.A.,University of Manchester | Szynkiewicz M.,University of Manchester | Chase D.S.,University of Manchester | And 53 more authors.
The Lancet Neurology | Year: 2013

Background: Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR). The disease is severe and effective treatments are urgently needed. We investigated the status of interferon-related biomarkers in patients with AGS with a view to future use in diagnosis and clinical trials. Methods: In this case-control study, samples were collected prospectively from patients with mutation-proven AGS. The expression of six interferon-stimulated genes (ISGs) was measured by quantitative PCR, and the median fold change, when compared with the median of healthy controls, was used to create an interferon score for each patient. Scores higher than the mean of controls plus two SD (>2·466) were designated as positive. Additionally, we collated historical data for interferon activity, measured with a viral cytopathic assay, in CSF and serum from mutation-positive patients with AGS. We also undertook neutralisation assays of interferon activity in serum, and looked for the presence of autoantibodies against a panel of interferon proteins. Findings: 74 (90%) of 82 patients had a positive interferon score (median 12·90, IQR 6·14-20·41) compared with two (7%) of 29 controls (median 0·93, IQR 0·57-1·30). Of the eight patients with a negative interferon score, seven had mutations in RNASEH2B (seven [27%] of all 26 patients with mutations in this gene). Repeat sampling in 16 patients was consistent for the presence or absence of an interferon signature on 39 of 41 occasions. Interferon activity (tested in 147 patients) was negatively correlated with age (CSF, r=-0·604; serum, r=-0·289), and was higher in CSF than in serum in 104 of 136 paired samples. Neutralisation assays suggested that measurable antiviral activity was related to interferon α production. We did not record significantly increased concentrations of autoantibodies to interferon subtypes in patients with AGS, or an association between the presence of autoantibodies and interferon score or serum interferon activity. Interpretation: AGS is consistently associated with an interferon signature, which is apparently sustained over time and can thus be used to differentiate patients with AGS from controls. If future studies show that interferon status is a reactive biomarker, the measurement of an interferon score might prove useful in the assessment of treatment efficacy in clinical trials. Funding: European Union's Seventh Framework Programme; European Research Council. © 2013 Elsevier Ltd. Source

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