Publications by authors named "D Debray"
Article Synopsis
- Wilson disease (WD) is a rare genetic disorder affecting copper metabolism, leading to copper buildup in the liver and brain, analyzed using data from the French national health database between 2010 and 2019.
- The study identified 2287 patients with a prevalence rate of 1 in 33,898 individuals; most patients were around 40 years old and exhibited significant morbidity with 44.2% having liver issues, 33.0% neurological symptoms, and 18.1% psychiatric problems.
- The research highlights the substantial healthcare costs associated with WD, averaging 4273.7€ per patient annually for hospitalization and significant sick leave expenses, indicating a considerable economic burden on affected individuals and the healthcare system.
Article Synopsis
- - The ChilSFree study analyzed immune dynamics in 244 pediatric liver transplant (pLT) patients over a year to find early biomarkers for rejection, using advanced lab techniques to measure soluble immune mediators (SIMs) and immune cells.
- - Researchers identified six unique SIM signatures that correlated with clinical outcomes, highlighting one specific signature linked to improved rejection-free survival and stable graft function characterized by low pro-inflammatory levels and high regenerative markers.
- - Findings suggest that these blood SIM signatures could serve as non-invasive, early indicators of rejection risk post-transplant, potentially allowing for more precise immunosuppression management in pediatric patients.
Background: Administrative healthcare databases can be utilised for research. The accuracy of the International Statistical Classification of Diseases and Related Health Problems, Tenth Edition, Australian Modification (ICD-10-AM) coding of cardiovascular conditions in New Zealand is not known and requires validation.
Method: International Statistical Classification of Diseases and Related Health Problems, Tenth Edition, Australian Modification coded discharges for acute coronary syndrome (ACS), heart failure (HF) and atrial fibrillation (AF), in both primary and secondary diagnostic positions, were identified from four district health boards between 1 January 2019 and 31 June 2019.
Wilson's disease (WD) is a rare inherited disease due to the mutation of the ATP7B gene, resulting in impaired hepatic copper excretion and its pathological accumulation in various organs such as the liver, the nervous system, or the kidneys. Whereas liver failure and neuropsychiatric disorders are the most common features, less is known about the renal complications. We conducted a review of the literature to define the characteristics and pathophysiology of kidney involvement during WD.
View Article and Find Full Text PDFThis is the third paper in the series providing updated information and recommendations for people with cystic fibrosis transmembrane conductance regulator (CFTR)-related disorder (CFTR-RD). This paper covers the individual disorders, including the established conditions - congenital absence of the vas deferens (CAVD), diffuse bronchiectasis and chronic or acute recurrent pancreatitis - and also other conditions which might be considered a CFTR-RD, including allergic bronchopulmonary aspergillosis, chronic rhinosinusitis, primary sclerosing cholangitis and aquagenic wrinkling. The CFTR functional and genetic evidence in support of the condition being a CFTR-RD are discussed and guidance for reaching the diagnosis, including alternative conditions to consider and management recommendations, is provided.
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