Publications by authors named "P Duffau"
Chronic histiocytic intervillositis of unknown origin (CHI) is a rare placental disorder associated with adverse pregnancy outcomes, frequent recurrence, and a lack of effective preventive strategies. Recent insights indicate a potential link between CHI-associated inflammatory lesions and the inflammasome pathway, suggesting innovative therapeutic avenues. Here we show a potential role of the inflammasome pathway in CHI through comprehensive transcriptomic analysis of grade 2 or 3 histopathologic CHI samples, paired with placental controls.
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- Systemic sclerosis (SSc) is a severe disease linked to high mortality rates, primarily due to related health issues known as comorbidities, which were analyzed in this study to create a 'comorbidome.'
- The study involved 400 patients, revealing that specific conditions like cancer, heart disease, and multiple medications significantly contributed to mortality rates.
- The findings emphasized the importance of these comorbidities, although the study's small sample size suggests the need for further research to validate the results and possibly develop a mortality risk assessment tool.
In primary immune thrombocytopenia (ITP), predictors of disease evolution and treatment response are needed. Data based on the site of platelet destruction are scarce. We performed a retrospective single-centre study of adult patients with primary ITP undergoing at least one Indium-111 platelet scintigraphy (IPS) between 2009 and 2018.
View Article and Find Full Text PDFIntroduction: Neurosarcoidosis (NS) is a systemic inflammatory granulomatous disease affecting of patients with sarcoidosis. Its diagnosis is difficult as there is no specific test for it. Because of its rarity, the management of NS has so far only been described in case series and short retrospective cohorts.
View Article and Find Full Text PDFPreventing hyperhomocysteinemia using vitamin B supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review.
Mol Genet Metab Rep
June 2024
Article Synopsis
- Acute hepatic porphyrias are genetic disorders that disrupt heme production, leading to harmful substances and severe neurological attacks, with givosiran being a new treatment targeting a key enzyme involved in this process.
- A case study of a 72-year-old patient showed that givosiran treatment caused high levels of homocysteine, prompting treatment discontinuation and revealing a possible connection to a deficiency in the cystathionine β-synthase enzyme.
- Ongoing vitamin B supplementation normalized homocysteine levels while maintaining givosiran treatment, highlighting the need to monitor vitamin status and homocysteine metabolism in patients receiving therapy for better management.