Publications by authors named "P Chamouard"

Article Synopsis
  • Variants in the PRSS1 and PRSS2 genes are linked to chronic pancreatitis (CP), prompting research into whether a deletion variant affecting two trypsinogen pseudogenes (PRSS3P2 and TRY7) might influence CP risk.
  • A study analyzed this deletion in over 4,000 participants from different countries and found that it is associated with a protective effect against CP, especially in French, German, and Japanese populations.
  • The research suggests that the deletion enhances the function of remaining genes, leading to regulated PRSS2 expression, which could be crucial in understanding CP susceptibility.
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Hepatitis E virus (HEV) infection is an emerging autochthonous disease in industrialized countries. Extra-hepatic manifestations, in particular neurologic manifestations, have been reported in HEV infection. Only a few cases of hepatitis E-associated Parsonage-Turner syndrome have been reported, and HEV genotypes were rarely determined.

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Adenosine triphosphate-binding cassette, subfamily B, member 4 (ABCB4) gene alterations can cause two distinct clinical entities: progressive familial intrahepatic cholestasis type 3 (PFIC3) and low phospholipid-associated cholelithiasis (LPAC). Based on the findings in two siblings and a review of the literature, we aimed to identify determinants of disease phenotypic traits associated with ABCB4 gene alterations. Two siblings presented, before the age of 30 years, recurrent symptomatic cholelithiasis and extensive biliary fibrosis that progressed towards portal hypertension and liver failure necessitating liver transplantation.

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