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Missing Enzyme-Rescue Metabolite Causes Rare Skeletal Dysplasia
medical-research6 months ago

Missing Enzyme-Rescue Metabolite Causes Rare Skeletal Dysplasia

The study identifies TGDS as an enzyme producing UDP-4-keto-6-deoxyglucose, which reactivates UXS1, a key enzyme in glycosaminoglycan synthesis. Deficiency in TGDS impairs this process, leading to Catel–Manzke syndrome, a rare skeletal disorder, with evidence from cell models, patient fibroblasts, and mouse models supporting this molecular mechanism.

MIT's Hydrogel 'Invisibility Cloak' Prevents Implant Scarring
medical-research1 year ago

MIT's Hydrogel 'Invisibility Cloak' Prevents Implant Scarring

MIT engineers have developed a hydrogel adhesive coating for medical implants that prevents fibrosis, or scar tissue formation, which can interfere with device function. This adhesive binds the devices to tissue, preventing the immune system from attacking them. The approach has shown success in animal models and could be used for various implants, including pacemakers and drug delivery devices. The research, published in Nature, was funded by the NIH and NSF.

"Preventing Brain Injuries: Strategies to Avoid Neurosurgery Consultations"
medical-research1 year ago

"Preventing Brain Injuries: Strategies to Avoid Neurosurgery Consultations"

A prospective multi-institutional trial validated the Brain Injury Guidelines (BIG) for traumatic brain injury patients, finding that low-risk patients classified by BIG did not require neurosurgical intervention, potentially reducing resource utilization. However, the study's data has limitations, including missing information and loss to follow-up, and lacks statistical analysis, suggesting caution in complete guideline implementation. The study highlights the need for further research and consideration of selection bias and generalizability in applying the guidelines to diverse clinical settings.