P Labrune

..In the three patients, treatment with ursodeoxycholic acid appeared to control the progression of the hepatic dysfunction...

..CONCLUSION: organ (liver/kidney) transplantation in glycogen storage disease type I may be advantageous when long-term metabolic control has been attempted. Nevertheless, post-transplantat long-term complications may still develop...

..Glycogen storage disease type Ia is a heterogeneous autosomal recessive condition...

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..This report may be helpful for prediction of natural history and outcome, particularly in prenatal diagnosis...

..This case and review of literature suggest that two genes ArgBP2 and PDLIM3, located at 4q35.1 and both involved in cardiac and muscle development, could be responsible for cardiac defects observed in terminal 4q35.1 deletions...

..Among these, one is a novel mutation of G6PT: 855T>C (L229P)...

..We report here the first case of a pure and complete trisomy 18p due to a SMC. This report and review of literature confirm that the main phenotypic anomaly associated with trisomy 18p is moderate mental retardation...

..1q25. This report and review of the literature suggest that functional disomy for chromosome X could explain the abnormal phenotype. In prenatal diagnosis, this can have implication for patient management and genetic counseling...

..To identify predictive factors of the presence of a serious bacterial infection (SBI) in febrile infants less than three months old...

..The second infant of this couple was affected by the same disease and was treated with success by phenobarbital...

..Neurological impairment is not classic in hereditary fructose intolerance, but its occurrence in the acute phase of the disease is possible and does not constitute an argument against the diagnosis...

..To elaborate and validate in general population a survey built with self-administered questionnaires in French about evaluation of sexual health for an application to men and women with metabolic disease...

..4 nmol x L(-1)). It is concluded that type-Ia glycogen-storage disease may be another condition in which abnormal handling of serotonin is one event in a multistep process leading to severe pulmonary arterial hypertension...

..The precise relationship between the conditions remains to be determined. Granulocyte function should be evaluated in any infant with Sweet syndrome...

..The national goal is to reach 75% influenza vaccination coverage by 2008, but data on coverage in high risk children are limited...

..6 Mb of chromosome 14...

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..Further trials are necessary for evaluating this technique in infants who are not hospitalized...

..We report the application interphase fluorescence in situ hybridization for the rapid prenatal diagnosis of a subtle structural chromosome anomaly in trophoblast cells...

..The infant died at 5 months. Neuropathological findings were consistent with Alpers syndrome...

..The phenotypic effects of the terminal deletion of 2p in addition to the trisomy are discussed. This is the third patient presenting with a severe clinical phenotype and a de novo inv dup del (2p)...

..Apolipoprotein E (apo E) is pivotal in lipid metabolism. In women with preeclampsia, an atherogenic state is observed. We hypothesized that a particular genotype of apo E may be associated with preeclampsia...

..This report demonstrates that uniparental disomy may be at the origin of very rare diseases transmitted as autosomal recessive traits and emphasizes the need for parental DNA analysis in such cases...

..SSCP analysis of DNA prepared either from amniocytes or from chorionic villi is a simple, reliable and fast method for prenatal diagnosis...

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..It is important to know the natural history and long-term outcome of these patients to improve their treatment during childhood. To reach this goal, collaboration between pediatric specialists and those who treat adults is essential...

..The girl died soon after operation...

..With ageing, more and more complications will develop of which progressive renal disease and the complications related to liver adenomas are likely to be two major causes of morbidity and mortality...

..In view of the uncertainty, prospective controlled trials seem warranted to clarify the indication for the use of granulocyte colony-stimulating factor in this disease...

..management of complications (directly) related to metabolic disturbances and complications which may develop with ageing and their follow-up. CONCLUSION: In this paper guidelines for the management of GSD I are presented...

..CONCLUSIONS: These results suggest that the hyperproteinemia of GSD-Ia (including hemostatic proteins) is attributable to hepatocyte dysfunction and not related to an inflammatory process...

..A PCR-based cDNA analysis showed that the c.985-1G>C mutation produced two abnormal spliced G6PT1 transcripts both encoding hypothetical truncated proteins...

..After population migration from east to west, this mutation was introduced into the Tunisian population, and then perpetuated, probably because of marriages in isolated communities...