Metagenomics test saves woman's sight after mystery infection

204 点作者 neversaydie16 天前

13 条评论

w10-112 天前

Leptospirosis is very rare (~100 cases/year in the UK?) and typically affects other tissues (She's lucky it seems to have only infected one eye), making it more like a unicorn than a zebra diagnostically. Effective antibiotics are common, but even via IV they might reach not therapeutic levels in the eye.Metagenomics are particularly good in cases like this where tissue samples are small. These spirochete are too small for light microscopy - probably why the lab missed them.

评论 #43886457 未加载

dtech12 天前

What I find most interesting about this story that antibiotics weren't given when the patient had persistent inflammation and a clear cause couldn't be identified. It seems like such a common low risk treatment just to try. Especially curious why auto immune was assumed instead.

评论 #43883997 未加载

评论 #43885191 未加载

评论 #43883889 未加载

评论 #43883880 未加载

评论 #43883982 未加载

评论 #43883911 未加载

评论 #43883929 未加载

评论 #43884752 未加载

uxhacker12 天前

The BBC article seems to overstate the uniqueness of the service at Great Ormond Street Hospital. While it’s true that they are the first in the UK to offer a UKAS-accredited clinical metagenomics service (UKAS being the United Kingdom Accreditation Service, which certifies labs to meet medical testing standards like ISO 15189), metagenomics itself is already being used in several other places across the UK.For example, the Earlham Institute, the University of Oxford, and the UK Health Security Agency are all actively involved in metagenomics research and surveillance.For example: <a href="https://www.phgfoundation.org/blog/metagenomic-sequencing-in-public-health/" rel="nofollow">https://www.phgfoundation.org/blog/metagenomic-sequencing-in...</a><a href="https://www.earlham.ac.uk/events/nanopore-metagenomics-sample-analysis-2024" rel="nofollow">https://www.earlham.ac.uk/events/nanopore-metagenomics-sampl...</a>

评论 #43894239 未加载

donatj12 天前

> It was only after Ellie was offered a "last resort" analysis called metagenomics, that she was diagnosed with a rare bacterial infection which was cured with antibiotics.After five years they'd never tried a broad-spectrum antibiotic treatment? That's the real story here.

评论 #43886448 未加载

评论 #43889089 未加载

评论 #43887941 未加载

loremm11 天前

I think there is a lot of hope because, in a purely research setting, this is extremely routine. The field of genomics is vast but the protocols are somewhat cheap and well understood. It's always hard to do a trial, and the tools are still often aimed at scientists (who are willing to spend months doing a single novel analysis), not point and click for a clinician. But even some relatively low hanging fruit will be extremely effective I thinkNot viral/bacterial but human mutations but this is an inspiring study --- <a href="https://pubmed.ncbi.nlm.nih.gov/31019026/" rel="nofollow">https://pubmed.ncbi.nlm.nih.gov/31019026/</a> , <a href="https://radygenomics.org/2021/13-hours-rady-childrens-institute-genomic-medicine-fastest-time-to-diagnosis-rare-disease/" rel="nofollow">https://radygenomics.org/2021/13-hours-rady-childrens-instit...</a>A child is born with potential rare genetic disease. They sequence their DNA within 13 hours and come back with a diagonsis in some proportion of cases (they give lots of stats, it's small sample size, maybe 1/4 improved outcomes, maybe 2/3 have immediate change to their care)

bsder12 天前

Presumably the issue is that "went swimming in the Amazon" suddenly puts a ton of rare, difficult to identify diseases on the table.Leptospirosis is known to be both prevalent in tropical areas and to be difficult to positively culture and identify.

评论 #43885228 未加载

patrickhogan111 天前

Regular doxycycline treatment is 5-7 days. She used 21 days of treatment. Meaning she may have tried antibiotics at some point, we are talking about 5+ years of history.

sleepyguy12 天前

I'm curious if they initially diagnosed her with uveitis and began treatment based on that. However, I'm surprised there was no mention of consulting an infectious disease specialist.In Canada, when a complex issue like this arises, it's common to see several different specialists; the testing is typically very thorough, even including some forms of genetic testing. They do everything they can to get you off the steroids, knowing it will cause issues if taken long-term.

epmaybe11 天前

Eye doctor here: some hot takes in this thread about the diagnostic abilities of the specialists involved in this patient's care. It's easy to be an armchair clinician.The timeline for delayed immune reaction to a leptospirosis infection makes diagnosis incredibly difficult. There was no mention of an acute febrile illness preceding this during the patient's trip to the tropics, which I assume a uveitis specialist would ask.While empiric treatment with doxycycline wouldn't be a bad idea, you have to decide what to empirically treat with, and for how long, and what the ramifications of increasing resistance to antibiotics are for society. Do I commit a patient to the hospital for two weeks of IV penicillin because I "suspect" syphilis? of course not.Better diagnostics for these occult diseases should be applauded. But we shouldn't be vilifying the clinicians that are by all accounts doing their best.

animal53112 天前

I'm currently struggling with my eyes. Over time my near vision started degrading as I'm approaching 50, then I hit that wall where it suddenly became a lot worse and I got glasses for the first time.But the problem is that it generates a ton of eye strain for some reason, so now I'm on eye drops probably every 30 to 45 minutes and if I don't take them my eyes become really sore and useless.At least I'm working for myself so its less of a hassle, but taking constant breaks to rest the eyes isn't great for productivity.

评论 #43888482 未加载

评论 #43886773 未加载

pton_xd12 天前

> It is now presumed Ellie picked up the bug swimming in the Amazon river in 2018, while on a trip to Ecuador and Colombia.Don't doctors always ask about international travel when you present with an unknown illness? The exact timeline is difficult to infer from the article but that seems like pretty important detail to overlook.

greg11 天前

Not sure how “cutting edge” meta genomics still is, although it’s still not widespread. I worked on a project to provide free metagenomic analysis that was launched in 2017 and still going: <a href="https://czid.org/" rel="nofollow">https://czid.org/</a>I always keep metagenomics in mind now for friends and family who have mystery ailments.

raincom12 天前

Crux:"Metagenomics technology uses cutting-edge genomic sequencing, which can identify all bacteria, fungi or parasites present in a sample by comparing them against a database of millions of pathogens.[if you] do a separate test for each and every one and if you've got an infection with something that's unexpected, rare or not previously known, you won't find it."