Publications by authors named "D Maas"
Article Synopsis
- Glycogen Storage Disease type 5 (GSD5), or McArdle disease, is characterized by a lack of glycogen phosphorylase enzyme in muscles, resulting in symptoms such as muscle pain and fatigue during physical activity.
- The study explored the experiences of 13 individuals with GSD5 through in-depth interviews, analyzing their challenges, diagnosis process, and coping strategies.
- Four main themes emerged, highlighting major difficulties in daily life, the importance of diagnosis for understanding their condition, management techniques like the ‘second wind’ phenomenon, and the crucial role of support networks for improving life quality.
Article Synopsis
- Drug-drug interactions (DDIs) involving P-glycoprotein (P-gp) can impact medication effectiveness and safety, necessitating careful management in clinical practice.
- This paper outlines a protocol to assess P-gp-related DDIs, combining literature review and expert input to develop management recommendations for clinicians.
- The end goal is to classify P-gp-modulators and substrates, identify clinically significant DDIs, and create practical guidelines based on the assessment findings.
Background: Clopidogrel is widely used for the secondary prevention of atherothrombotic events in patients with coronary artery disease (CAD), ischemic stroke, and peripheral arterial disease (PAD). CYP2C19 plays a pivotal role in the conversion of clopidogrel to its active metabolite. Clopidogrel-treated carriers of a CYP2C19 loss-of-function allele (LOF) may have a higher risk of new atherothrombotic events.
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- Three types of muscular dystrophy, called dystroglycanopathies, are linked to problems in the ribitol pathway and involve specific gene mutations.
- Ribose supplementation was tested in a patient with limb girdle muscular dystrophy type 2I, showing it was well tolerated and led to significant increases in a beneficial compound (CDP-ribitol) and a decrease in muscle enzyme levels.
- Although the clinical and patient-reported outcomes didn't show objective improvements, the patient felt subjective benefits in muscle strength, fatigue, and pain, suggesting more research is needed on ribose's effects.