  Hepatocyte transplantation using the domino concept in a child with Tetrabiopterin non-responsive phenylketonuria.; DEBRAY, François-Guillaume  ; et alin Cell Transplantation (2012), 21(12), 2765-70 Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency. Treatment is based on a strict natural protein-restricted diet that is associated with the risk of malnutrition and ... [more ▼] Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency. Treatment is based on a strict natural protein-restricted diet that is associated with the risk of malnutrition and severe psychosocial burden. Oral administration of tetrahydrobiopterin can increase residual enzyme activity, but most patients with severe clinical phenotypes are non-responders. We performed liver cell transplantation in 6 years-old boy with severe tetrahydrobiopterin non-responsive phenylketonuria, who failed to comply with diet prescriptions. The transplanted hepatocytes were obtained in part from an explanted glycogen storage type 1b liver. Following two infusions, blood phenylalanine levels returned within the therapeutic target while the phenylalanine half-life assessed by loading tests decreased from 43 h to 19 h. However, three months later, blood phenylalanine concentrations increased and the phenylalanine intake had to be reduced. Cell based therapy is a promising therapeutic option in phenylketonuria and the domino concept may solve the issue of cell sources for hepatocyte transplantation. [less ▲] Detailed reference viewed: 13 (5 ULg) Upper gastrointestinal tract bleeding management: Belgian guidelines for adults and children.; ; et al in Acta Gastro-Enterologica Belgica (2011), 74 Upper gastrointestinal bleeding (UGIB) remains a common disease affecting 100 to 170 per 100 000 adults per year and causing thereby a significant burden to healthcare resources. Despite the improvements ... [more ▼] Upper gastrointestinal bleeding (UGIB) remains a common disease affecting 100 to 170 per 100 000 adults per year and causing thereby a significant burden to healthcare resources. Despite the improvements in the management of this disorder, the associated mortality ranges from 5 to 14 %. Since the general management of UGIB is not uniform, the main objective of this work is to provide guidelines for the care of adults and children presenting with bleeding caused by gastro-duodenal ulcer or variceal rupture. Methods: In the absence of evidence-based recommendations, these guidelines were proposed after expert opinions reconciliation and graded accordingly. They are based on the published literature up to September 2010 and graded according to the class of evidence. Results: The current guidelines for the management of UGIB include recommendations for the diagnostic process, general supportive care, pharmacological therapy aiming at bleeding control, specific and endoscopic treatment of acute bleeding and follow-up for both gastro-duodenal ulcers and portal hypertension induced bleeding. [less ▲] Detailed reference viewed: 192 (4 ULg)Management of familial hypercholesterolemia in children and young adults: Consensus paper developed by a panel of lipidologists, cardiologists, paediatricians, nutritionists, gastroenterologists, general practitioners and a patient organization.; ; et al in Atherosclerosis (2011), 218(2), 272-80 Since heterozygous familial hypercholesterolemia (HeFH) is a disease that exposes the individual from birth onwards to severe hypercholesterolemia with the development of early cardiovascular disease, a ... [more ▼] Since heterozygous familial hypercholesterolemia (HeFH) is a disease that exposes the individual from birth onwards to severe hypercholesterolemia with the development of early cardiovascular disease, a clear consensus on the management of this disease in young patients is necessary. In Belgium, a panel of paediatricians, specialists in (adult) lipid management, general practitioners and representatives of the FH patient organization agreed on the following common recommendations. Conclusion: The aim of this consensus statement is to achieve more consistent management in the identification and treatment of children with HeFH in Belgium. [less ▲] Detailed reference viewed: 31 (0 ULg) |
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