Publications by authors named "Mauras Mathilde"
Article Synopsis
- - The study focuses on the impact of Hepatocyte Nuclear Factor 1-beta (HNF1B) gene variants and chromosome 17q12 deletion (17q12del) on kidney disease progression, particularly chronic kidney disease (CKD), in a large cohort of 521 patients.
- - Findings reveal that patients with the 17q12del experience a significant delay in the progression to CKD stage 3 compared to those with other HNF1B variants, with specific mutations in the DNA-binding domains correlating with even better outcomes.
- - Additionally, the 17q12del is linked to lower magnesium levels (hypomagnesemia) and higher likelihood of elevated uric acid levels (hyperuric
Article Synopsis
- Low 25-Hydroxyvitamin D (25(OH)D) levels in preterm infants are linked to an increased risk of developing bronchopulmonary dysplasia (BPD), but higher supplementation didn't show any positive effects on preventing BPD.
- This study analyzed infants born before 31 weeks gestation, tracking their 25(OH)D levels to assess the relationship between these levels and the risk of BPD or death.
- It found that while lower birth weight and gestational term were significantly associated with BPD and mortality, high levels of 25(OH)D (≥120 nmol/L) did not show a significant correlation with these outcomes.
Article Synopsis
- A study looked at how well a hospital in France helped preterm babies get enough vitamin D using a special plan that was changed in 2016.
- They checked vitamin D levels in 99 babies born before 31 weeks who were in the hospital in 2018, finding most had normal or high levels by the time they went home.
- Although the new plan worked better to prevent too little or too much vitamin D, some babies still had high vitamin D levels, so more research is needed to figure out the best amount for these infants.
Background: Liver lesions of hemolytic uremic syndrome due to Shiga-toxin-producing Escherichia coli (STEC-HUS) are uncommon.
Case-diagnosis/treatment: We report three observations of severe STEC-HUS with delayed hepatic involvement. They presented with multiple organ failure and received eculizumab; 15 days after the onset of STEC-HUS, cholestasis appeared and cytolysis worsened.