Publications by authors named "D P Germain"
Paleo-evo-devo implications of a revised conceptualization of enameloids and enamels.
Biol Rev Camb Philos Soc
December 2024
Understanding the origin and evolution of the mineralized skeleton is crucial for unravelling vertebrate history. However, several limitations hamper our progress. The first obstacle is the lack of uniformity and clarity in the literature for the definition of the tissues of concern, especially of enameloid(s) and enamel(s), resulting in ambiguous terminology and inconsistencies among studies.
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- Research shows that mammary gland aging can happen in cycles influenced by maternal ancestry, rather than just gradually over time.
- In these cycles, mouse mammary glands at 11 and 19 months show similarities related to cancer, while younger glands (3 and 14 months) do not, potentially explaining why breast cancer peaks around these ages.
- The study suggests that if harmful mutations in cells are avoided during the more vulnerable aging phases, rejuvenation might help delay cancer and could lead to longer lifespans in mice.
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- Fabry disease presents complex challenges in patient care, and while enzyme replacement therapy (agalsidase beta) is beneficial, its long infusion time can be burdensome for patients.
- A study involved 39 adult patients with Fabry disease to evaluate the safety of reducing the infusion time to 90 minutes without premedication, with a total of 85 infusions conducted.
- The findings showed no reported adverse events, stable vital signs, and high patient satisfaction, indicating that shorter infusion times are safe and feasible for patients with Fabry disease.*
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Giancarlo Parenti Simona Fecarotta Marianna Alagia Federica Attaianese Alessandra Verde Dominique P Germain
Orphanet J Rare Dis
November 2024
Article Synopsis
- Clinical pathway recommendations (CPR) provide guidance on managing specific diagnoses, in this case, Pompe disease, a metabolic disorder caused by a deficiency in a specific enzyme.
- The CPR document was created by a working group from MetabERN, which focuses on metabolic diseases, and involved systematic literature searches and quality assessments based on established methodologies.
- This document aims to standardize care for Pompe disease patients by addressing various aspects including pathophysiology, diagnosis, treatment, and follow-up strategies for healthcare providers.
Article Synopsis
- A study called FABRYDIAL aimed to determine how common Fabry disease (FD) is among dialysis patients aged 18 to 74 in France, involving 124 dialysis centers and excluding cases of nephropathy unrelated to FD.
- Out of 6,032 targeted patients, 3,088 (73.6%) were included, with biochemical and genetic tests conducted on samples to identify potential cases of FD.
- The findings revealed a low prevalence of FD: 0.058% in males, 0% in females, and 0.035% overall, suggesting that while rare, signs of FD should be investigated in patients with unexplained kidney issues due to its serious implications if diagnosed early.