Publications by authors named "C Douillard"
Background And Objective: Adult patients with early-treated phenylketonuria (AwET-PKU) may present some subtle neurocognitive deficits. The aim of the study was to investigate 1) neurocognitive functions in a large group of AwET-PKU 2) the influence of plasma phenylalanine (Phe).
Methods: Participants: 187 AwET-PKU (classic PKU [cPKU] 81%, mild PKU [mPKU] 14%, and mild persistent hyperphenylalaninemia [MPH] 5%).
Article Synopsis
- The study investigates the effectiveness of a rapid immunoassay technique (Snibe) versus mass spectrometry (LC-MS/MS) in measuring plasma homocysteine levels, particularly in patients with nitrous oxide abuse.
- Significant elevations in plasma homocysteine were found in nitrous oxide abusers, with the immunoassay delivering faster results, although it generally underestimated high levels compared to LC-MS/MS.
- The findings highlight the need for the immunoassay as a quick initial screening tool, while still recommending confirmation with LC-MS/MS for accurate diagnosis of conditions associated with oxidative stress.
Objectives: Patients with inherited metabolic disorders (IMDs) may require emergency hospital care to prevent life-threatening situations such as metabolic decompensation. To date, over one thousand different rare IMDs have been identified, which means that healthcare professionals (HCPs) initiating emergency treatment may not be familiar with these conditions. The objective of this initiative was to provide HCPs with practical guidance for the acute management of children and adults with IMDs who need emergency care, regardless of the underlying reason.
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- Phenylketonuria (PKU) is a serious genetic disorder that can lead to severe cognitive impairment and other health issues if untreated, prompting a study on its economic impact in France.
- A retrospective analysis was conducted using health insurance claims from the national database, identifying 3549 PKU patients and comparing their healthcare costs with matched controls in 2018.
- Results revealed that PKU patients incurred healthcare costs that were 7.7 times higher than those of non-PKU controls, mainly due to expensive pharmaceutical needs like dietary amino acid supplements, particularly impacting those diagnosed early.
Article Synopsis
- Acid sphingomyelinase deficiency (ASMD) is a serious genetic disease that can affect people from childhood to adulthood, caused by problems with a gene called SMPD1.
- A study reviewed medical records from 27 hospitals in France to learn more about the health and survival of patients with ASMD from 1990 to 2020.
- The results showed that patients with type A usually did not live past early childhood, while those with type B lived longer, but there were still risks of early death from serious illnesses like neurodegeneration and cancer.