References of "Lombet, Jacques"
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See detailThrombose veineuse rénale : un cas didactique
Tribolet, Sophie ULiege; DRESSE, Marie-Françoise ULiege; Lombet, Jacques et al

in Journal du Pédiatre Belge (2014)

On retiendra que, devant toute hématurie macroscopique accompagnée d’une thrombocytopénie, d’une masse abdominale et/ou d’une anurie, voire d’une hypertension artérielle chez un nouveau-né, le diagnostic ... [more ▼]

On retiendra que, devant toute hématurie macroscopique accompagnée d’une thrombocytopénie, d’une masse abdominale et/ou d’une anurie, voire d’une hypertension artérielle chez un nouveau-né, le diagnostic de thrombose veineuse rénale doit être évoqué. L’échographie Doppler rénale est l’examen de choix pour le confirmer. En l’absence de consensus thérapeutique, outre la surveillance et la correction éventuelle des troubles hydroélectrolytiques, une héparinothérapie pourrait être initiée afin d’éviter l’extension thrombotique. La fibrinolyse est à réserver aux cas exceptionnels d’atteinte bilatérale. Cette pathologie reste malheureusement grevée d’une morbidité importante, avec parfois une atrophie, une insuffisance rénale et une hypertension artérielle. [less ▲]

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See detailNeonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.
Jacquinet, Adeline ULiege; Verloes, Alain; Callewaert, Bert et al

in European Journal of Medical Genetics (2014), 57(5), 230-4

We report a 16-year-old girl with neonatal progeroid features and congenital lipodystrophy who was considered at birth as a possible variant of Wiedemann-Rautenstrauch syndrome. The emergence of ... [more ▼]

We report a 16-year-old girl with neonatal progeroid features and congenital lipodystrophy who was considered at birth as a possible variant of Wiedemann-Rautenstrauch syndrome. The emergence of additional clinical signs (marfanoid habitus, severe myopia and dilatation of the aortic bulb) lead to consider the diagnosis of the progeroid variant of Marfan syndrome. A de novo donor splice-site mutation (c.8226+1G>A) was identified in FBN1. We show that this mutation leads to exon 64 skipping and to the production of a stable mRNA that should allow synthesis of a truncated profibrillin-1, in which the C-terminal furin cleavage site is altered. FBN1 mutations associated with a similar phenotype have only been reported in four other patients. We confirm the correlation between marfanoid phenotype with congenital lipodystrophy and neonatal progeroid features (marfanoid-progeroid-lipodystrophy syndrome) and frameshift mutations at the 3' end of FBN1. This syndrome should be considered in differential diagnosis of neonatal progeroid syndromes. [less ▲]

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See detailEffet du Ventolin sur la capacité résiduelle fonctionnelle du nouveau-né
Rigo, Vincent ULiege; Mulder, André; Lombet, Jacques et al

in Proesmans, Willem (Ed.) Mini Acta (1997, March)

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See detailEffet de l'administration d'hydrate de chloral sur la fonction respiratoire du nouveau-né
Mulder, André; Rigo, Vincent ULiege; Lombet, Jacques et al

in Proesmans, Willem (Ed.) Mini Acta (1997, March)

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See detailLactase Insufficiency Revisited
Forget, P; Lombet, Jacques; Grandfils, Christian ULiege et al

in Journal of Pediatric Gastroenterology and Nutrition (1985), 4

The definition of "insufficient" small bowel lactase activity varies greatly among authors. The present study is aimed at redefining lactase insufficiency by comparing intestinal lactase activity and ... [more ▼]

The definition of "insufficient" small bowel lactase activity varies greatly among authors. The present study is aimed at redefining lactase insufficiency by comparing intestinal lactase activity and results of the lactose breath hydrogen test. Primary "insufficient" lactase activity was considered to be present when a child with a normal small bowel histology showed lactose malabsorption as measured by the lactose breath hydrogen test. The lactase activity of 22 "normal" children ranged from 0.77 to 4.57 U/g wet weight, while five children showed primary lactase insufficiency as defined above. Small bowel lactase activity in the latter patients was < 0.74 U/g wet weight. Sucrase and maltase activities were similar in both groups of patients. We conclude that children with a normal small bowel histology should be considered to have primary lactase insufficiency when small bowel lactase activity is below 0.75 U/g wet weight. [less ▲]

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See detailDetermination of thiamine and thiamine phosphates as thiochrome derivatives by reversed phase chromatography on polystyrene packing materials
Bontemps, José; Bettendorff, Lucien ULiege; Lombet, Jacques et al

in Chromatographia (1984), 18

Detailed reference viewed: 39 (5 ULiège)