Publications by authors named "J L Rouanet"
Introduction: Adults with Down syndrome demonstrate striatum-first amyloid accumulation with [C]PiB PET imaging, which has not been replicated with [F]florbetapir (FBP). Early striatal accumulation has not been temporally quantified with respect to global cortical measures.
Methods: Longitudinal PiB (n=175 participants) and FBP (n=92 participants) data from the Alzheimer Biomarkers Consortium-Down Syndrome were used to measure cortical and striatal binding.
The locus coeruleus (LC) is among the first brain structures impacted by Alzheimer's disease (AD), and noradrenergic denervation may contribute to early neurovascular dysfunction in AD. Mechanistic links between the LC and cerebral perfusion have been demonstrated in rodents, but there have been no similar studies in aging humans. Community-dwelling older adults with no history of stroke or dementia (N=66) underwent structural (T1-MPRAGE; T1-FSE) and perfusion (resting pCASL) MRI.
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- MENin-KMT2A inhibitors (MENi) are new drugs being tested for treating specific types of acute myeloid leukemia (AML), particularly KMT2Ar and NPM1 cases.
- A 71-year-old woman treated with the MENi revumenib (REV) for relapsed NPM1 AML developed a serious skin condition resembling pyoderma gangrenosum after two weeks.
- This case is significant as it is the first documented instance of MENi causing this type of skin condition, emphasizing the need to monitor for severe skin-related side effects in patients undergoing treatment with MENi.
Article Synopsis
- The study aimed to clarify the dermatological features of Costello syndrome (CS) and distinguish them from other similar syndromes like cardiofaciocutaneous syndrome (CFCS) and types of Noonan syndrome (NS).
- A ten-year multi-center study involving 31 patients found common skin and hair anomalies in CS, such as excessive eyebrows and various types of skin growths, which can help differentiate CS from CFCS and NS.
- The findings propose multiple melanocytic naevi as a potential marker for a milder form of CS and suggest that acitretin could be beneficial for treating certain skin conditions, although no clear genotype-phenotype link was identified.
Parkinson's disease (PD) is the most common neurodegenerative movement disorder, and neuroprotective or disease-modifying interventions remain elusive. High-throughput markers aimed at stratifying patients on the basis of shared etiology are required to ensure the success of disease-modifying therapies in clinical trials. Mitochondrial dysfunction plays a prominent role in the pathogenesis of PD.
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