23 Matching Annotations
  1. Feb 2025
    1. Disease: Von-willebrand Disorder Type 2B, Noncanonical

      Patient: 55 YO, Italian male

      Note: these heterozygous variants are in cis mutations

      Variant1: VWF NM_000552.5 c.2771G>A p.(R924Q), in exon 21, D'D3 domain affected

      Variant2: VWF NM_000552.5 c.6532G>T p.(A2178S), in exon 37, D4 domain affected

      Phenotypes: Mucosal and cutaneous bleeding, low VWF antigent and VWF activity, mild thrombocytopenia, increased ristocetin-induced platelet aggregation, deficiency in high-molecular-weight multimers. Epistaxis, repeated GI bleeding, easy bruising, ISTH BAT score of 7.

      Note: Proband initially diagnosed with VWD type 1 in 2010 but later re-diagnosed as VWD-Type 2.

      Family: No reported family history of bleeding, parents unable to be included in family work-up as they were deceased by time of study. Paternity test was performed for family, parental link established. Patient's daughter does not present the same mutation noted in proband but has heterozygous polymorphic variant inherited from mother which is: VWF NM_000552.5 c.3379C>T p.(P1127S), in exon 25. Daughter did not show menorrhagia or hemorrhagic disorder except for large hematoma on the thigh after trauma of moderate intensity.

      Molecular workup: Paternity test, Sanger-sequencing to validate genetic variants, multimer analysis with electrophoresis, platelet aggregation analysis with Ristocetin, electron micrographs to observe conformation differences.

      Prediction workup: Structural analysis with I-TASSER modeling program to identify perturbed structure. A2178S is predicted as tolerated in all in-silico systems used.

      Database Information: Effect of the R924Q mutation is noted in literature database but has contradicting reports of effects altering VWF levels. Some studies do report it as a polymorphic variant

      Variant is present in dbSNP database (rs33978901). MAF in European population 0.01< MAF< 0.02

      Effect of A2178S variant is present in dbSNP database (rs34230288), MAF = 0.02 in European population.

  2. Nov 2024
    1. The store offers maintenance and repair lessons to the public (including Philadelphia school students). The shop hosts poetry nights, open mics, comedy shows and other events. It even offers typewriters to public places such as bookstores, libraries and coffeeshops to bring the machines back into the collective consciousness.
  3. Oct 2024
    1. The 2024 Phoenix Type-In by [[Joe Van Cleave]]

      Platen shrinkage

      • most typewriters are 6 lines per inch
      • 6.5 lines per inch based on actual measurement per JVC on one of his machines
      • 2mm shrinkage??
      • Per Bob/Typewriter Muse 1.1

      Bob had a machine that was supposed to be 1.27 but was measured at 1.259 when pulled off. So shrinkage of platens can be roughly fifteen hundredths of an inch (0.015" or about 0.4mm)

      Bob at Typewriter Muse custom tunes platens to the typewriter. Only place doing platens outside of JJ Short.

      JVC's partner took him to the Phoenix Type-in for her birthday.

      Bill Wahl of Mesa Typewriter Exchange

      grandfather started in the 40s<br /> bill started in 73<br /> part time help to 92 and now by himself<br /> does his benchwork after hours and chats during the day

      Ted Munk

      adding machine database consideration

      looking for service manuals for: - royal portables 50-59<br /> - skyriter 40s / 50s<br /> - sm9 service manual

      Royal Mercury manual is a clear, well-written manual. The Smith-Corona series 5 typewriter manuals are great too, though a bit more dense.

      Brian Goode and Christy organized this year's Phoenix Type-In.

  4. Sep 2024
    1. Type-in activities:<br /> - learning about typewriters, both using and how they work;<br /> - demonstrations of typewriter maintenance, cleaning, how to change a ribbon, and small repairs for common problems - typewriter tool showcases - what tools might you need to maintain, clean, and repair your typewriter? - lots of machines to try out, which might best suit your writing style, and typing touch? If you don't have a typewriter, this is a great way to try some out before buying your first one - typewriter purchasing and collecting advice - encouraging typing as a distraction and screen-free writing tool - writing (fiction, non-fiction, poetry) along with potential writing prompts (this could dovetail in with other library-related writing endeavors); - A group story: A single typewriter is reserved to one side upon which each participant can contribute by typing a single sentence to create a collaborative/group story "exquisite corpse"-style; - typewriter art and arttyping - Speed typing contest (with small prizes) - We'll bring stationery (paper, envelopes, stamps) to encourage participants to type letters to friends or family (bring an address for someone you'd like to write to); - typewriter swap and sale (optional depending on the venue's perspective; sales are not the primary purpose here) - typewriter repairs using 3D printing or designing replacement parts (if the venue can support this) - typewriter handicrafts (typewriter covers and sewing/repairing cases) - typewriter resources (repair shops, where to find ribbon, how old is my machine?, et al.) - a possible typewriter mystery game? - share stories - encourage community

      For a local library-specific type in:<br /> - library card applications which can be typewritten for potential patrons who don't have a library card - typewriter books (particularly if hosted at a library; place a hold on several typewriter-related books which attendees can browse through at the event and check out afterward) - 3D printing typewriter keys, spare parts; design of replacement parts for 3D printing

      Attendees are encouraged to bring one (or many more of their own favorite manual typewriters) to use, showcase, or demonstrate to others, but having your own typewriter is NOT a requirement for attendance.

  5. Aug 2024
  6. May 2024
    1. Bruder, Jessica. “Click, Clack, Ding! Sigh ...” The New York Times, March 30, 2011, sec. Fashion. https://www.nytimes.com/2011/03/31/fashion/31Typewriter.html.

    2. “Like a jam session for people who like typewriters,” said Michael McGettigan, 56, a local bike shop owner who came up with the idea. “You had unions do sit-ins and hippies do be-ins, so I thought, ‘We’ll do a type-in.’ ”
    1. The term "Type-Out" was coined by Tom at Cambridge Typewriter in MA to refer to the practice of having a Type-In outside in the sunshine. The first such Type-Out was held in front of Cambridge Typewriter on Oct 22, 2011.
  7. Mar 2024
    1. https://archive.org/details/run-de-1986-10/page/120/mode/2up

      "RUN – Unabhängiges Commodore Computermagazin", Ausgabe 10/Oktober 1986, which has a hexdump code listing of a C64 Zettelkasten

      ᔥ[Michael Gisiger[]] in mastodon: (@gisiger@nerdculture.de)

      Lust auf #Retrocomputing und #PKM mit einem #Zettelkasten? Bitte schön, in der Oktober-Ausgabe 1986 des #Commodore Magazins RUN findet sich ein Listing für den #C64 dazu. Viel Spass beim Abtippen 😅

      https://archive.org/details/run-de-1986-10/page/120/mode/2up

      See additional conversation at: https://www.reddit.com/r/c64/comments/1bg0ja1/does_anyone_have_the_zettelkasten_program_from/?utm_source=share&utm_medium=web2x&context=3

  8. May 2023
  9. May 2022
  10. Aug 2021
    1. It means that when having a type guard:TypeScript and JavaScript runtime are tied to the same behaviour.
    2. Inside the if statement, TypeScript will assume that amount cannot be anything else than a string, which is true also at the runtime thanks to typeof JavaScript operator.
  11. Mar 2021
  12. Feb 2021