113 Matching Annotations
  1. Jul 2025
  2. Jun 2025
  3. May 2025
  4. Mar 2025
  5. Jan 2025
    1. Case: only patient, female,

      Disease Assertion: UCD/OTCD

      Family Info:

      Case Presenting HPOs: HP:0011463 Childhood onset, hyperammonemia (HP:0001987), oroticaciduria (HP:0003218), low plasma citrulline (HP:0003572), vomiting (HP:0002013),

      Case HPO FreeText : episodes of nausea, stomachache and temporary elevated trans- aminase

      Case NOT HPOs:

      Case NOT HPO Free Text: Sanger sequencing revealed no pathogenic mutation. real-time PCR was conducted on blood DNA from the patient and a male control subject using the Applied Biosystems 7300 real time PCR system (Thermo Fisher Scientific). Several primer pairs were designed for OTC (upstream of exon 1 and intron 6) and RPP30 that was used as an autosomal single copy gene reference to generate amplicons suitable for real-time PCR

      Test results plasma ammonia: 220 μg/dl (ref 12~ 60 μg/dl) plasma glutamine:1212 nmol/ml (ref 420–700) plasma citrulline: 18.4 nmol/ml (ref 17–43), urinary orotate: 234.3 μmol/g Cr (ref 4.7 ~ 15.9 μmol/g creatinine) Arg: 32.2 nmol/ml (ref 54–130).

      Case Previous Testing:

      Supplemental Data: Genetic analysis section,

      Notes: No variant mutation detected but was found first documented case of OTCD caused by an exonic duplication (exons 1 to 6) of the OTC gene. Further analysis indicated that it resulted from complex rearrangements.

      Treatment: protein-restricted diet and by oral sodium phenylbutyrate and arginine.

      Variant: NM_000531.6:-

      ClinVarID: -

      CAID: -

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)

  6. Feb 2024
  7. Jan 2024
    1. Why should this conversation be separate from other conversations about the work to be done? Design is one consideration alongside frontend and backend considerations, which often all intersect and require the same participants. Shifting this discussion to a separate work item can result in disjointed conversations and difficulty finding where a decision was made.
    2. Personally I think we could get a ton more benefits and would also be able to pull new users into our platform by finding better ways to integrate/link/connect/display Figma in our work item objects. Today the biggest downside for "Design management" is that it's basically just a copy of what's happening inside of Figma that has to be manually kept in sync and requires users to constantly switch back and forth:
  8. Dec 2023
    1. 巢狀結構,可以建立多層筆記本分類(雖然這樣做不一定比較好)一則筆記可以放入多個筆記本!

      一放入多:最好是採用連結,以免生出內容稍有出入的多個版本,那就罪大惡極。

      後記 Update: I tested it and confirm the note is referred to by link. So, changing the note will update it for all notebooks the note is under. 經我測試,確認是一份筆記內容,多個連結。

  9. Apr 2023
  10. Oct 2022
  11. Sep 2022
    1. Unfortunately, Wiki depends a lot on HEAD ref for its functionality, such as versions management, file collision check, etc. That causes multiple quirky behaviors. The normal project repositories don't fall into such behaviors because GitLab (Gitaly actually) has a complicated heuristic to determine the current default branch, while Wiki repository does not.
    1. Each slip ought to be furnished with precise refer-ences to the source from which its contents havebeen derived ; consequently, if a document has beenanalysed upon fifty different slips, the same refer-ences must be repeated fifty times. Hence a slightincrease in the amount of writing to be done. Itis certainly on account of this trivial complicationthat some obstinately cling to the inferior notebooksystem.

      A zettelkasten may require more duplication of effort than a notebook based system in terms of copying.


      It's likely that the attempt to be lazy about copying was what encouraged Luhmann to use his particular system the way he did.

  12. Aug 2022
    1. taurusnoises · 11 hr. ago · edited 11 hr. agoObsidianMy guess is that, like every one else, Luhmann had an array of both conscious and subconscious influences. That said, the great bulk of Luhmann's system can be found in the book I mentioned above. Right down to the diagrams and illustrations of the cards."If the Zettelkasten, used in many ways, gradually becomes a constantly growing reservoir of foreign and personal ideas, then its careful user will, often enough, and with deep focus into certain special areas from this occupation, have independent scientific achievement. At least he will be sufficiently familiar with individual questions in one of his subjects and will be able to look forward to the moment when he is about to complete a specifically formulated written examination paper within a given period of time without the oppressive feeling of insecurity." (1931, Heyde, pardon the rough trans.)Sound familiar?Also, who are the intellectual historians you're referring to here?

      I'm the first intellectual historian in line on this one, but there are certainly others. :) I haven't seen anything from Schmidt on this niche sub-topic, but I would suspect those in his group are highly curious about these specifics.

      I've been reading portions of Heyde, but I'm not seeing anything new, innovative, or exciting in his suggestions that hadn't broadly existed in the prior literature for a century or more, though he does go into more depth on various areas than others before him. In fact, Heyde suggests making multiple copies of one's notes to file under a variety of commonplace subject headings, a practice which we specifically don't see Luhmann doing. The vast majority of the Zettelkasten space up until this time and even since is simply the commonplace book tradition using index cards instead of notebooks. Luhmann was doing several things subtly different than this prior tradition. Whether they are really important or not at scale really remains to be seen. It's reasonably obvious based on what I've seen thus far that he was following Heyde (and other precursors) in spirit, but definitely not in the "letter of the 'law'". There are very subtle pieces of Heyde which are uniquely and intriguingly suggestive of why Luhmann's practice was different than others, but the average reader is not likely to see them.

      My German is dreadful at best, so I'll refrain from commenting further on specifics until I've seen a better/full translation in English. I'm definitely curious to hear the thoughts of others who've translated/read it.

    1. While Heyde outlines using keywords/subject headings and dates on the bottom of cards with multiple copies using carbon paper, we're left with the question of where Luhmann pulled his particular non-topical ordering as well as his numbering scheme.

      While it's highly likely that Luhmann would have been familiar with the German practice of Aktenzeichen ("file numbers") and may have gotten some interesting ideas about organization from the closing sections of the "Die Kartei" section 1.2 of the book, which discusses library organization and the Dewey Decimal system, we're still left with the bigger question of organization.

      It's obvious that Luhmann didn't follow the heavy use of subject headings nor the advice about multiple copies of cards in various portions of an alphabetical index.

      While the Dewey Decimal System set up described is indicative of some of the numbering practices, it doesn't get us the entirety of his numbering system and practice.

      One need only take a look at the Inhalt (table of contents) of Heyde's book! The outline portion of the contents displays a very traditional branching tree structure of ideas. Further, the outline is very specifically and similarly numbered to that of Luhmann's zettelkasten. This structure and numbering system is highly suggestive of branching ideas where each branch builds on the ideas immediately above it or on the ideas at the next section above that level.

      Just as one can add an infinite number of books into the Dewey Decimal system in a way that similar ideas are relatively close together to provide serendipity for both search and idea development, one can continue adding ideas to this branching structure so they're near their colleagues.

      Thus it's highly possible that the confluence of descriptions with the book and the outline of the table of contents itself suggested a better method of note keeping to Luhmann. Doing this solves the issue of needing to create multiple copies of note cards as well as trying to find cards in various places throughout the overall collection, not to mention slimming down the collection immensely. Searching for and finding a place to put new cards ensures not only that one places one's ideas into a growing logical structure, but it also ensures that one doesn't duplicate information that may already exist within one's over-arching outline. From an indexing perspective, it also solves the problem of cross referencing information along the axes of the source author, source title, and a large variety of potential subject headings.

      And of course if we add even a soupcon of domain expertise in systems theory to the mix...


      While thinking about Aktenzeichen, keep in mind that it was used in German public administration since at least 1934, only a few years following Heyde's first edition, but would have been more heavily used by the late 1940's when Luhmann would have begun his law studies.

      https://hypothes.is/a/CqGhGvchEey6heekrEJ9WA


      When thinking about taking notes for creating output, one can follow one thought with another logically both within one's card index not only to write an actual paper, but the collection and development happens the same way one is filling in an invisible outline which builds itself over time.

      Linking different ideas to other ideas separate from one chain of thought also provides the ability to create multiple of these invisible, but organically growing outlines.

  13. Jul 2022
    1. The goal of this project is to have a single gem that contains all the helper methods needed to resize and process images. Currently, existing attachment gems (like Paperclip, CarrierWave, Refile, Dragonfly, ActiveStorage, and others) implement their own custom image helper methods. But why? That's not very DRY, is it? Let's be honest. Image processing is a dark, mysterious art. So we want to combine every great idea from all of these separate gems into a single awesome library that is constantly updated with best-practice thinking about how to resize and process images.
    1. It is sublimely annoying to have to configure the exact same parameters in config/environments, spec/spec_helper.rb and again here... all in marginally different ways (with 'http://' or without, with port number or port specified separately). Even Capybara.configure syntax can't seem to stay consistent to itself between versions...
  14. Jun 2022
  15. May 2022
  16. Feb 2022
  17. Jan 2022
  18. Sep 2021
    1. Use this to load modules whose location is specified in the paths section of tsconfig.json when using webpack. This package provides the functionality of the tsconfig-paths package but as a webpack plug-in. Using this plugin means that you should no longer need to add alias entries in your webpack.config.js which correspond to the paths entries in your tsconfig.json. This plugin creates those alias entries for you, so you don't have to!
  19. Aug 2021
  20. Jun 2021
    1. One of the consequences (although arguably not the primary motivation) of DRY is that you tend to end up with chunks of complex code expressed once, with simpler code referencing it throughout the codebase. I can't speak for anyone else, but I consider it a win if I can reduce repetition and tuck it away in some framework or initialisation code. Having a single accessor definition for a commonly used accessor makes me happy - and the new Object class code can be tested to hell and back. The upshot is more beautiful, readable code.

      new tag?:

      • extract reusable functions to reduce duplication / allow elegant patterns elsewhere
  21. May 2021
  22. Mar 2021
    1. Look no further than C++, where nearly every major software suite has its own strings, vectors, etc. implemented, frequently duplicating functionality already implemented in (1) STL, and (2) Boost. I seem to recall that the original Android Browser, for example, had no fewer than 5 kinds of strings on the C++ side of the code base, because it interfaced with several different systems and each had its own notion of what a string should be.
  23. Feb 2021
    1. Why is all this interaction code better? Two reasons: One, you can reuse the FindAccount interaction in other places, like your API controller or a Resque task. And two, if you want to change how accounts are found, you only have to change one place.

      Pretty weak arguments though...

      1. We could just as easily used a plain object or module to extract this for easy reuse and having it in only one place (avoiding duplication).
  24. Dec 2020
  25. Nov 2020
  26. Oct 2020
    1. Please don't copy answers to multiple questions; this is the same as your answer to a similar question

      Why on earth not? There's nothing wrong with reusing the same answer if it can work for multiple questions. That's called being efficient. It would be stupid to write a new answer from scratch when you already have one that can work very well and fits the question very well.

    1. hyperscript is more concise because it's just a function call and doesn't require a closing tag. Using it will greatly simplify your tooling chain.

      I suppose this is also an argument that Python tries to make? That other languages have this con:

      • cons: closing tags make it more verbose / increase duplication and that Python is simpler / more concise because it uses indentation instead of closing delimiters like end or } ?
    1. Note how we have to duplicate the code between these two lifecycle methods in class. This is because in many cases we want to perform the same side effect regardless of whether the component just mounted, or if it has been updated. Conceptually, we want it to happen after every render — but React class components don’t have a method like this. We could extract a separate method but we would still have to call it in two places.
  27. Sep 2020
  28. Aug 2020
  29. Jul 2020
    1. RDFa is intended to solve the problem of marking up machine-readable data in HTML documents. RDFa provides a set of HTML attributes to augment visual data with machine-readable hints. Using RDFa, authors may turn their existing human-visible text and links into machine-readable data without repeating content.
  30. Jun 2020
  31. May 2020
    1. Despite our best efforts to deal with all of those issues, over the course of time we fall behind. When you look at an issue it's sometimes unclear whether or not we intent to provide the functionality you propose, whether or not we fix the bug, whether or not the issue is a duplicate of another one. In order to restore a reasonable level of clarity we annually perform a House Keeping Iteration in which we go through all open issues. We categorize, label, fix, and close issues. This results in a wave of notification which is hard to deal with (our apologies) but in the end there is better understanding of what will happen to your ideas.
  32. Apr 2020
    1. Running the same code in the browser and on the server in order to avoid code duplication is a very different problem. It is simply a matter of good development practices to avoid code duplication. This however is not limited to isomorphic applications. A utility library such as Lodash is “universal”, but has nothing to do with isomorphism. Sharing code between environments does not give you an isomorphic application. What we’re referring to with Universal JavaScript is simply the fact that it is JavaScript code which is environment agnostic. It can run anywhere. In fact most JavaScript code will run fine on any JavaScript platform.
    1. let page = document.getElementById('buttonDiv');

      duplication: As a result of duplication, they somehow ended with this line being present here but not in the downloadable file which is supposed to have the same contents as the snippet shown here.

      They should have updated their static page generation script/process so that their main document referenced options.js and their generator literally included the contents of the referenced file inline. Then there is no chance of the contents of the inline snippet and downloaded snippet diverging and not matching.

      Evidently, however, the contents of each are managed independently (in other words, there is duplication), easily leading to the contents diverging, as they did.

  33. Mar 2020
  34. Dec 2019
    1. It's confusing whether one should put things in gemspec development_dependencies or in Gemfile or in both.

      Duplication is bad since the lists could get out of sync. And the gemspec's development_dependencies should be a complete list. Therefore, my opinion is that that should be the canonical list and therefore the only list.

      Actually, what good is gemspec's development_dependencies? A contributor should clone the repo, run bundle, and get the dev dependencies that way. Therefore development_dependencies is unneeded and you should only list them in Gemfile.

      It is simpler to just use Gemfile, since it is a more familiar format. You can copy and paste content into it. For example, if you extract a gem out of an app, you may wan to copy/move some gems from app's Gemfile into new gem's Gemfile. It also generates a Gemfile.lock (which you shouldn't add to git).

    1. Having duplicate code is not ideal. One version of the code may be more up-to-date than another version, creating something similar to a race condition around code versioning. If a bug is found, it would need to be fixed in every place that shares the code while hoping that the developer can remember them all. An inconsistent bug fixing process could multiply bugs and create havoc in a codebase.
  35. Nov 2019
    1. Wow, looks like a lot of duplication in https://github.com/constelation/monorepo/blob/master/packages/Style_/src/index.native.tsx compared to https://github.com/constelation/monorepo/blob/master/packages/Style_/src/index.tsx to handle differences in props on the different platforms such as backfaceVisibility.

      And even structure/shape differences like:

      const style = { ...styleFromProps, ...this.props.style, ...Child.props.style }
      

      vs.

          propsToPass.style = [styleFromProps, this.props.style, Child.props.style]
      

      Is there no way to remove this duplication?