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https://www.selleckchem.com/products/debio-0123.html Based on the diagnostic results, two families underwent prenatal diagnosis and had unaffected babies. The incorporation of exome-based CNV detection into conventional SNV/Indel analysis for a single trio-WES test significantly improved the diagnostic rate, making WES a more powerful, practical, and cost-effective tool in the clinical diagnosis of NDDs. Despite adequate medical treatment, many young adults with haemophilia develop joint alterations-especially in ankles and knees. Undetected over years, subtle structural changes cause subclinical symptoms, before problems become obvious. To objectify these silent pressure pains, the pressure pain threshold (PPT) can be measured by algometry. The aim was to investigate and compare the effect of age on PPTs in asymptomatic ankles and knees between boys and young adults with haemophilia and age-matched controls, in order to gain better knowledge about the alteration of the periarticular structures with increasing age. Nineteen persons with haemophilia (PwH; severe or moderate; 8-30years) and 19 age-matched controls with 'healthy' ankles and knees were recruited. Asymptomatic joints with a Haemophilia Joint Health Score=0 were included. The PPT was measured on four periarticular points per joint, and the data were analysed with a linear mixed model. The PPT of the control group increased with age, whereas the PPT of the PwH decreased. The difference in age effect per year in kPa between PwH and controls was as follows β [95%-CI] -15.41 [-31.63; 0.79]. Although the result was not statistically significant (p=.08), a clear tendency was shown. The results suggest that subclinical alterations in the periarticular structures of these joints may evolve unnoticed over time. However, further research is warranted to determine whether this observed trend is confirmed in a larger sample and at what age the PPT begins to decrease in PwH compared to controls. The results suggest th

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