Large-scale screening of lipase acid deficiency in at risk population.

BACKGROUND: Lysosomal acid lipase deficiency (LALD, OMIM#278000) is a rare lysosomal disorder with an autosomal recessive inheritance. The main clinical manifestations are related to a progressive accumulation of cholesteryl esters, triglycerides or both within the lysosome in different organs such as the liver, spleen, and cardiovascular system. A wide range of clinical severity is associated with LALD including a severe very rare antenatal/neonatal/infantile phenotype named Wolman disease and a late-onset form named cholesteryl ester storage disease (CESD). METHODS: This study aimed to investigate a cohort of at-risk patients (4174) presenting with clinical or biological signs consistent with LALD using the assessment of LAL activity on dried blood spots. RESULTS: LAL activity was lower than 0.05 nmol/punch/L (cut-off: 0.12) in 19 patients including 13 CESD and 6 Wolman. Molecular study has been conducted in 17 patients and succeeded in identifying 34 mutated alleles. Fourteen unique variants have been characterized, 7 of which are novel. CONCLUSION: This study allowed to identify a series of patients and expanded the molecular spectrum knowledge of LALD. Besides, a new screening criteria grid based on the clinical/biological data from our study and the literature has been proposed in order to enhance the diagnosis rate in at risk populations.

[Efficacy of hydrostatic balloon dilatation of anastomotic Crohn's disease strictures]. / Efficacité de la dilatation hydrostatique des sténoses anatomiques de la maladie de Crohn.

OBJECTIVES: To estimate the efficacy of hydrostatic balloon dilatation (HD) of anastomotic strictures of Crohn's disease and the impact of medical treatment on the duration of HD effects. METHODS: Sixteen patients with anastomotic stricture (average length: 4.7 cm) were treated by HD and followed-up for a median duration of 24 months. Immunosuppressive treatment was given when a second HD was necessary. RESULTS: HD failed in 3 patients (19%). Thirty-two HD are performed in the other 13 (1 HD: 6; 2 HD: 2; > 2 HD: 5). No severe complication was observed. Eight patients received immunosuppressive treatment started before the first HD in 4 cases or following the second HD in 4 cases. Based on actuarial analysis, clinical and surgical recurrence rates were 39% and 0% at 1 year and 73% and 12% at 2 years, respectively. Time between the first and the second HD were not statistically different (P=0.24) for HD performed with (11.5 +/- 8.8 months; range: 5-30) or without (8.0 +/- 6.9 months; range: 2-17) immunosuppressive treatment. CONCLUSION: HD delays the surgical timing for anastomotic Crohn's disease strictures. Medical treatment associated with HD does not seem to modify the duration of the clinical remission.

[Epidemiology and management of care of hepatitis C infection in the Poitou-Charentes region in 1997 and 2000]. / Epidémiologie et prise en charge de l'infection par le virus de l'hépatite C dans la Région Poitou-Charentes.

OBJECTIVES: A repeat cross-sectional survey was performed in 1997 and 2000 in the Poitou-Charentes district of France to compare screening and management of hepatitis C virus infection. METHODS: The "Hepatitis C Network" asked the biological laboratories in the region to provide anonymous results of serology tests performed during two two month periods at a 3 year interval. An epidemiological and follow-up questionnaire was sent to the medical practitioner who prescribed the test for all positive tests. RESULTS: More serology tests were prescribed in 2000 (7074) than in 1997 (6168). The access to screening differed significantly between the 4 counties of the district (P<0.0001). Sixty-nine and 58 patients were first diagnosed respectively in 1997 and 2000. In 2000, these patients were younger (P=0.05) and were infected later (P=0.03). The risk factors were similar for the two periods. Respectively 23% and 26% underwent a liver biopsy, and 12% were treated. CONCLUSION: Screening improved after a press campaign, but there was no increase in the number of newly detected patients. In 2000, one third of patients were still inadequately cared for.