Publications by authors named "M M Brands"
Syndromic Retinitis Pigmentosa.
Prog Retin Eye Res
December 2024
Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations in the context of a syndrome. This manuscript discusses the broad spectrum of syndromes associated with RP, pathogenic mechanisms, clinical manifestations, differential diagnoses, clinical management approaches, and future perspectives.
View Article and Find Full Text PDFBlood pressure variability (BPV) has emerged as a novel risk factor for cognitive decline and dementia, independent of alterations in average blood pressure (BP). However, the underlying consequences of large BP fluctuations on the neurovascular complex are unknown. We developed a novel mouse model of BPV in middle-aged mice based on intermittent Angiotensin II infusions.
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- This study explores the preferences and risk tolerance regarding gene therapy among patients with different lysosomal storage disorders, including Gaucher disease, Fabry disease, and mucopolysaccharidosis type III A/B.
- Using a survey designed based on previous focus group findings, researchers assessed how individuals valued various aspects of gene therapy against their current treatment options.
- Results indicated that patients with more severe disease tended to have higher risk tolerance for gene therapy, with Gaucher disease respondents generally preferring standard care, while those with mucopolysaccharidosis type III were more open to the risks associated with gene therapy.
Article Synopsis
- This study investigates the link between wet work conditions and moderate-to-very-severe hand eczema (HE) using a job exposure matrix (JEM) in the Dutch general population.
- With data from the Lifelines Cohort Study, researchers found significant connections between various wet work factors and HE, particularly in female participants.
- The findings highlight the need for further observational research to clarify these associations, especially considering the limitations of the JEM approach.