Publications by authors named "E PHILIPPE"

Pigmentation is orchestrated by hundreds of genes involved in cellular functions going from early developmental fate of pigment cells to melanin synthesis. The Two Pore Channel 2 (TPC2) a Ca2+ and Na+ channel acidifies melanosomal pH and thus inhibits pigmentation. A young patient was recently reported with generalized hypopigmentation but uneventful ocular examination, caused by the de novo heterozygous TPCN2 variant c.

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Article Synopsis
  • The study explores the use of diffuse reflectance spectroscopy (DRS) and coherent anti-Stokes Raman scattering (CARS) spectroscopy as effective optical methods for identifying different types of human brain tissue during deep brain stimulation (DBS) procedures.
  • A custom optical probe was integrated into a DBS lead, allowing for the acquisition of DRS and CARS spectra while inserting the lead into targeted brain regions in a human cadaver, which were then analyzed to classify the tissue as white matter (WM) or gray matter (GM).
  • Results showed that these optical methods could successfully differentiate WM and GM and possibly detect blood presence, indicating that such techniques could enhance surgical guidance and potentially replace more time-consuming methods
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The brainstem pedunculopontine (PPN) and laterodorsal tegmental (LDTg) nuclei are involved in multifarious activities, including motor control. Yet, their exact cytoarchitectural boundaries are still uncertain. We therefore initiated a comparative study of the topographical and neurochemical organization of the PPN and LDTg in cynomolgus monkeys (Macaca fascicularis) and humans.

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Background: Long COVID is highly heterogeneous, often debilitating, and may last for years after infection. The aetiology of long COVID remains uncertain. Examination of potential serological markers of long COVID, accounting for clinical covariates, may yield emergent pathophysiological insights.

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