Lifetime Disability-adjusted Life Year assessment of indolent systemic mastocytosis.

Background: Indolent Systemic Mastocytosis (ISM) is a rare disease associated with numerous and diverse symptoms that significantly impact patients' overall health, psychological, emotional, and professional well-being, ultimately affecting their quality of life.

Objective: We aim to estimate the Disability-adjusted Life Year (DALY) of ISM to assess the burden for patients and society.

Methods: We used prospective and retrospective data on symptoms and quality of life from an ISM population recruited at the French expert center CEREMAST, to estimate Disability Weight allowing DALY calculation.

Dodecyl creatine ester, a promising treatment to deliver creatine to neurons, achieves pharmacology efficacy in creatine transporter deficiency.

Dodecyl creatine ester (DCE) is a creatine prodrug currently developed for brain diseases, including creatine transporter deficiency (CTD), an incurable rare genetic disease. A dual strategy combining a prodrug to bypass the non-functional creatine transporter and its delivery via the nose-to-brain pathway has been proposed to replenish creatine levels in cerebral cells, particularly in neurons of CTD patients. In vitro and in vivo studies in various animal models, including wild-type non-human primates and creatine transporter deficient mice, show that formulated DCE, when administered intranasally, achieves significant cerebral distribution up to the target cells, the neurons, and modulates the expression of neuronal markers related to cognitive function at doses intended for patients.

How to determine hands' vibration perception thresholds - a systematic review.

The vibration perception threshold (VPT) is the minimum amplitude required for conscious vibration perception. VPT assessments are essential in medical diagnostics, safety, and human-machine interaction technologies. However, factors like age, health conditions, and external variables affect VPTs.

The Influence of Physiological Blood Clot on Osteoblastic Cell Response to a Chitosan-Based 3D Scaffold-A Pilot Investigation.

Background: The use of ex vivo assays associated with biomaterials may allow the short-term visualization of a specific cell type response inserted in a local microenvironment. Blood is the first component to come into contact with biomaterials, providing blood clot formation, being substantial in new tissue formation. Thus, this research investigated the physiological blood clot (PhC) patterns formed in 3D scaffolds (SCAs), based on chitosan and 20% beta-tricalcium phosphate and its effect on osteogenesis.