Survival of patients with acid sphingomyelinase deficiency (ASMD) in the United States (US): A retrospective real-world study

Ruth Pulikottil-Jacob,Maria Veronica Munoz-Rojas,Gaelle Gusto,Aastha Chandak,Artak Khachatryan, Tamar Banon, Sumudu Dehipawala, Brittany Smith, Amod Athavale,Marie Fournier,Sophie Guillonneau,Jerome Msihid, Laurence Pollissard, Fernando Laredo

Molecular Genetics and Metabolism(2023)

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摘要
Gallbladder motility has been studied in patients with functional gastrointestinal disorders, such as functional dyspepsia, irritable bowel syndrome and biliary disorders without gallstones and results of these observations are often inconclusive and conflicting.The investigation was performed on 180 therapy-naïve newly diagnosed patients with functional dyspepsia (97 females and 83 males), aged 20–79 in which we have investigate ultrasonographically parameters of gallbladder motility.Bonferroni post hoc correction stressed that fasting gallbladder volume and ejection fraction were significantly distorted in individuals with postprandial distress syndrome, although, the residual gallbladder volume was significantly lower in patients with epigastric pain syndrome comparing with other examinees. Ejection fraction of the gallbladder negatively correlated with body mass index.The impaired contractibility of the gall bladder in patients with functional dyspepsia, based on the results of this study, is illustrated by the changes in the ejection fraction, which was more pronounced in patients with the postprandial distress syndrome.
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关键词
acid sphingomyelinase deficiency,patients,asmd,real-world
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