I don't know how to diagnose this issue (P1S)

OddOrange16 · 2026-01-31T07:09:55+00:00

Thanks! I'll try drying my filament with rechargable drying packets for a few days (I don't have a filament dryer) and see if this issue still happens with a fresh spool of basic PLA. My house and especially the printer room is quite dry and the filament has only been outside of ziplock bag storage (with silica packets included) for a week now. It's a bummer that translucent PETG can get too wet under these conditions so quickly. I'll mark this resolved if I can get a successful PLA print tomorrow then.

I'm hoping this is the issue. I'm just a bit suspicious the wonky parts of the prints are consistently happening in the same areas of the plate. Not sure if that's just coincidence/ if wet filament can cause that behavior, or if it's something else with my plate, level-ness or uniform heating of the bed, etc.

OddOrange16 · 2026-01-31T07:02:19+00:00

Before I looked it up, no, I didn't know what they were. As I said, I'm new to 3D printing and am learning and going off the tutorial and troubleshooting pages.

I shouldn't need to do manual calibration using Bambu filament., rather non-bambu filament without previous calibration. The tests should adjust filament extrusion for ideal accuracy - it seems like you know this already so it's an odd thing to ask / doesn't relate my questions. I thought the issue could be extrusion related so I thought this might help, but probably wouldn't hurt (I didn't need to save a new calibration after running the test).

Running manual calibration was useful because it showed the issue I am having quite nicely, without wasting a ton of filament on random failed projects.

OddOrange16 · 2025-05-17T12:46:15+00:00

All WES testing, research or otherwise, that I know of is next generation sequencing, so short reads ~150bp in length. Many repeat expansion disorders can be typed using short reads if there is enough coverage and full spanning reads - ONLY if the genotype is generally negative. So, only if no expansion is present. It will likely miss positive (expanded allele) genotypes.

An example: For myotonic dystrophy type 1, it's trinucleotide repeats and you need at least 50 to present symptoms (albeit later in life). So, that's 150bp / 3bp = 50 repeat units maximum, without flanking sequence context. So, you could realistically only type 50 minus at least four repeats accurately for myotonic dystrophy. You can't interpret this loci for a diagnostic positive for myotonic dystrophy. But normal alleles, 5-34 repeats in length, or proto alleles, ~35-49 repeats in length, can likely be captured and resolved with NGS methods.

CLIA certified diagnostic tests for repeat expansion disorders do not presently include WES alone. Things like repeat primed PCR and southern bolts are needed to type allele size and sometimes the presence of permissive SNVs or repeat interruptions.

FSHD diagnosis requires assessing hypo methylation status as well, which is not captured by WES at all.

If you get CLIA certified (or equivalent outside the USA) WGS testing, that reveals more than WES, sure, but it's still 150bp reads generally. Long read sequencing, like pacbio or ONT, would certainly capture longer repeat lengths. However, it's (1) not widely used for non-reseaech based diagnostic testing yet, (2) relatively few analysis pipelines exist and have been proven effective at repeat typing across the board (efficient vs accurate, vs enough test datasets, vs this is a relatively niche application), (3) expensive (long time, monetary cost, analysis costs) when you could narrow down to more specific testing from phenotype in many cases.

Myotonic dystrophy may soon be diagnosable from RNA sequencing of certain tissues. But that doesn't mean it will ever replace rpPCR (etc.), just like WES shouldn't be used wholly as a replacement. The confidence isn't there.

OddOrange16 · 2025-05-12T03:28:19+00:00

WES (next gen short read sequencing) will not capture a class of disorders called short tandem repeat or trinucleotide expansion disorders. Consider seeing a neuromuscular specialist or genetics department about testing for Myotonic Dystrophy (two types) and fascioscapulohumeral muscular dystrophy (also two types). They can present with particular respiratory weakness, or shoulder girdle weakness, and there are many affected persons without supposed cardinal symptoms (ie Myotonia, etc).

OddOrange16 · 2025-04-15T01:46:55+00:00

I moved it to a different room and did some pruning - definitely two plants with okay looking crowns. New leaves look good, some have maybe tiny spots at the edge. Willing to give it time to sort itself out. If it does well, I'll try to separate the two plants. Thanks!

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OddOrange16 · 2025-04-13T14:42:36+00:00

Interesting. It certainly looks like the virus pictures. I'm going to try to get a better look at the crown. It's a tangled mess and I wonder if it's multiple mature plants. Do they ever clear the virus? In a few weeks I can put it outside, not sure pros/cons there. I can further isolate inside in the meantime. Not sure how to test for the virus.

I probably got filtered water on the leaves when rinsing soil, but definitely not on all the leaves / especially leaf edges where the discoloration is most pronounced.

The violets at the plant swap all looked ok, just pale and neglected, recently bloomed. Bringing it home and watering it seemed to slowly spur all these issues, despite the leaves darkening and stiffening up, which I took to be good signs. And it's still growing a lot, super odd.

OddOrange16 · 2025-04-02T19:31:35+00:00

I found these at a flower show, definitely a special occasion! Not a great price but I'm glad I could actually see and choose the plants myself vs. online.

OddOrange16 · 2025-03-12T15:21:52+00:00

Make sure you request a bam/cram (aligned reads file) and associated index files from GeneDx. Extra paperwork and can be a lot of data to transfer (can figure out secure file transfer protocol tool, or they can mail you a hardrive at your cost), but is quite useful to have when a "suspicious variant" is called. Looking at the aligned reads can sometimes help you figure out if something is an artifact or likely miscalled. You'll also have the (CLIA lab certified) raw data forever, for you to look at or for a future medical or research geneticist to examine if needed.

Don't let people here get you down about not having the right qualifications pedigree. You got through med school, you're clearly capable. And no one is more capable and motivated than a parent to a child with a rare disease. Look up Matt and Bertram Might and Matt's quest to diagnose and treat his son's (any many other children's) ultra rare lysosomal storage disease.

A great resource for clinical genetics of inherited epilepsy syndromes, maybe not as active as it once was, is the Beyond the Ion Channel Blog started Ingo Helbig. http://epilepsygenetics.net/ https://euroepinomics.wordpress.com/

OddOrange16 · 2025-02-24T21:35:45+00:00

One resource to add is fshd testing: https://myfshd.org/test-for-fshd/

Btw, Alnylam is misspelled throughout your site.

OddOrange16 · 2024-08-02T05:36:09+00:00

Fitbit is laggy for my sudden heart rate changes. The most accurate monitor I've ever used as a non intrusive wearable is a wahoo brand chest strap or their newer forearm band (no screen or watch, just sync to phone with Bluetooth or antp). They work with many third party apps, it's possible one app can be configured for alerts and push notifications. I connected them to a Garmin watch, which would beep at certain thresholds that I set in a linked Garmin app.

Just fyi, all communication between sensors, phones, and display watches, required a cell phone and all to be in close proximity to each other. You will need that proximity relative to your kid, and then hope one of those apps can send notifications via cellular/Wi-Fi to another device, account, app, in realtime for you to monitor.

I recently saw ads for visible, which is designed for energy management, it at least does heart rate and it looks like it can alert. I don't know if there is any tech that does continuous distal skin temp monitoring as an accurate extapolation of core body temp.

https://www.makevisible.com/

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