Publications by authors named "W J Lubbers"
Article Synopsis
- - Osteogenesis Imperfecta (OI), or "brittle bone disease," is a rare genetic disorder that causes fragile bones and potential deformities due to defects in collagen type I, requiring comprehensive care throughout a patient's life stages.
- - Treatment primarily focuses on supportive measures, including medications like bisphosphonates and various orthopedic surgeries, which have shown positive results, especially in children, but there is a notable lack of guidelines for adults transitioning from pediatric care.
- - A systematic review of existing literature emphasizes the need for a multifaceted approach by various medical specialists to enhance the transition from pediatric to adult care for OI patients, stressing the importance of education, personalized plans, and ongoing follow-up.
Background: International guidelines recommend preoperative multidisciplinary team (MDT) assessment for high-risk surgical patients. Preoperative MDT meetings can help to improve surgical care, but there is little evidence on whether they improve patient outcomes.
Methods: This paper aims to share our experience of MDT meetings for high-risk surgical patients to underline their added value to the current standard of care.
Fibrodysplasia ossificans progressiva (FOP), sometimes known as myositis ossificans progressiva, is an ultra-rare disease in which bone is formed in muscular tissue, tendons and ligaments. This is known as heterotopic ossification (HO). FOP is caused by a heterozygous mutation in the highly conserved ACVR1/ALK2 gene which affects about 1 in 1.
View Article and Find Full Text PDFAutomated approaches from proteomics are used to characterise peptides for food applications and in protein digests. Peptide annotations and confidence in these annotations are then based on the fragment spectra. Low reproducibility in repeat analyses has been reported even for annotations with high confidence.
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