Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0851184 (thinning)
 11,252 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present a case in which mfERG and OCT helped to make a diagnosis of an old BRAO in the setting of compound heterozygous MTHFR genotype. A 44-year-old woman presented for evaluation of a 10 month history of persistently cloudy vision OS. She had been worked up previously for MS versus BRAO, and she was on coumadin, folate, and multivitamin at the time of presentation. The patient has a fraternal twin sister who was diagnosed with MS. Dilated fundus examination OS showed subtle inferior optic atrophy with slight narrowing of the inferotemporal retinal artery, and HVF test revealed a superonasal depression OS. mfERG also showed superonasal depression OS. Retinal origin of the chief complaint was further confirmed by OCT, which showed thinning of the NFL in the corresponding region of the retina OS. Coagulopathy evaluation revealed C677T/A1298C compound heterozygous genotype for MTHFR, and plasma homocysteine level after 6 months of folate and multivitamin supplementation was 10 microM (reference range 4-10 microM). The patient was diagnosed with BRAO and maintained on coumadin therapy.
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PMID:Branch retinal artery occlusion associated with compound heterozygous genotype for methylenetetrahydrofolate reductase. 1735 7

Improved endovascular embolization of vascular conditions can generate better patient outcomes and minimize the need for repeat procedures. However, many embolic materials, such as metallic coils or liquid embolic agents, are associated with limitations and complications such as breakthrough bleeding, coil migration, coil compaction, recanalization, adhesion of the catheter to the embolic agent, or toxicity. Here, we engineered a shear-thinning biomaterial (STB), a nanocomposite hydrogel containing gelatin and silicate nanoplatelets, to function as an embolic agent for endovascular embolization procedures. STBs are injectable through clinical catheters and needles and have hemostatic activity comparable to metallic coils, the current gold standard. In addition, STBs withstand physiological pressures without fragmentation or displacement in elastomeric channels in vitro and in explant vessels ex vivo. In vitro experiments also indicated that STB embolization did not rely on intrinsic thrombosis as coils did for occlusion, suggesting that the biomaterial may be suitable for use in patients on anticoagulation therapy or those with coagulopathy. Using computed tomography imaging, the biomaterial was shown to fully occlude murine and porcine vasculature in vivo and remain at the site of injection without fragmentation or nontarget embolization. Given the advantages of rapid delivery, in vivo stability, and independent occlusion that does not rely on intrinsic thrombosis, STBs offer an alternative gel-based embolic agent with translational potential for endovascular embolization.
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PMID:An injectable shear-thinning biomaterial for endovascular embolization. 2792 27