33 Matching Annotations
  1. Last 7 days
  2. Nov 2024
    1. Disease: Platelet-type Von-willebrand Disorder (PT-VWD)

      Patient: 17 yo, male, adopted

      Variant: GP1BA NM_000173.7: c:580C>T p.(P.Leu194Phe), Heterozygous, gain-of-function

      Phenotypes: moderate bleeding phenotype, ISTH-BAT bleeding score of 3, recurrent epistaxis, easy bruising, mild thrombocytopenia

      Family: Adopted, no other family history mentioned, segregation studies not performed.

      Genetic analysis performed: found variant in GP1BA, results obtained by sanger sequencing.

      Variant present in gnomAD(rs368111193): low allele frequency, contradictory classifications

      Variant is not present in ClinVar, LOVD, or HGMD databases

      According to this paper, ACMG guidelines classified this variant as a VUS.

      This paper entered it into Clinvar (var ID 1693270)

  3. Sep 2024
    1. heterozygous c.G380A variant in GP1BA (NM_000173.7) (Figure 1B), resulting in a missense substitution of an arginine with a glutamine at position 127

      Disease: platelet-type von Willebrand disease (PT-VWD)

      Patient: 14 yo, Male

      Variant: GP1BA NM_000173.7:c.389G>A p.(Arg127Gln), Heterozygous, Gain-of-Function (GOF)

      Located in LRR5 domain of GP1BA

      Family: Mother did not refer any bleeding symptoms (variant absent in mother) Father not available for collection of clinical history or platelet function testing

  4. Jan 2023
  5. Dec 2022
    1. It is crucial to establish the key feedbacks regulating, or destabilizing, each safety variable, and how they interact on different timescales. To quantitatively assess and combine these feedbacks, an established but under-used approach of calculating and combining feedback “gain” factors (Lashof, 1989) can provide a useful framework.

      !- Feedback Gain Factors : used to assess and combine feedbacks - this helps establish the key feedbacks regulating or destabilizing safety variables

  6. Jun 2022
    1. * This is called “detachment gain,” as explained in The Detachment Gain: TheAdvantage of Thinking Out Loud by Daniel Reisberg, and refers to the“functional advantage to putting thoughts into externalized forms” such asspeaking or writing, leading to the “possibility of new discoveries that might nothave been obtained in any other fashion.” If you’ve ever had to write out aword to remember how it’s spelled, you’ve experienced this

      Each word you write triggers mental cascades and internal associations, leading to further ideas, all of which can come tumbling out onto the page or screen.*

      Did he pull this from Reisberg originally or from Annie Murphy Paul who he's quoted before?

      This concept is an incredibly powerful one and definitely worthy of underlining in a book about thinking and note taking. It's rather sad that he hides the entire concept in the footnotes where the majority of the audience he's trying to reach will completely miss it.

      tie this into Feynman technique and generation effect

  7. Nov 2021
  8. Sep 2021
    1. As the title of a research paper that the Vallée-Tourangeaus wrote with Lisa G. Guthrie puts it, “Moves in the World Are Faster Than Moves in the Head.”

      Perhaps this is some of the value behind the ability to resort index cards within a zettelkasten over the prior staticness of the commonplace tradition? The ideas aren't anchored to the page, but can be moved around, rearranged.

    2. Moving mental contents out of our heads and onto the space of a sketch pad or whiteboard allows us to inspect it with our senses, a cognitive bonus that the psychologist Daniel Reisberg calls “the detachment gain.”

      Moving ideas from our heads into the real world, whether written or potentially using other modalities, can provide a detachment gain, by which we're able to extend those ideas by drawing, sketching, or otherwise using them.

      How might we use the idea of detachment gain to better effect in our pedagogy? I've heard anecdotal evidence of the benefit of modality shifts in many spaces including creating sketchnotes.

      While some sketchnotes don't make sense to those who weren't present for the original talk, perhaps they're incredibly useful methods for those who are doing the modality shifts from hearing/seeing into writing/drawing.

  9. Jul 2021
  10. May 2021
  11. Aug 2020
    1. Lozano, R., Fullman, N., Mumford, J. E., Knight, M., Barthelemy, C. M., Abbafati, C., Abbastabar, H., Abd-Allah, F., Abdollahi, M., Abedi, A., Abolhassani, H., Abosetugn, A. E., Abreu, L. G., Abrigo, M. R. M., Haimed, A. K. A., Abushouk, A. I., Adabi, M., Adebayo, O. M., Adekanmbi, V., … Murray, C. J. L. (2020). Measuring universal health coverage based on an index of effective coverage of health services in 204 countries and territories, 1990–2019: A systematic analysis for the Global Burden of Disease Study 2019. The Lancet, 0(0). https://doi.org/10.1016/S0140-6736(20)30750-9

  12. Jul 2020
  13. Jun 2020
  14. May 2020
    1. Google encouraging site admins to put reCaptcha all over their sites, and then sharing the resulting risk scores with those admins is great for security, Perona thinks, because he says it “gives site owners more control and visibility over what’s going on” with potential scammer and bot attacks, and the system will give admins more accurate scores than if reCaptcha is only using data from a single webpage to analyze user behavior. But there’s the trade-off. “It makes sense and makes it more user-friendly, but it also gives Google more data,”
    2. For instance, Google’s reCaptcha cookie follows the same logic of the Facebook “like” button when it’s embedded in other websites—it gives that site some social media functionality, but it also lets Facebook know that you’re there.
  15. Apr 2020
    1. de nouvelles approches utilisent des dispositifs numériques pour virtualiser ou animer les files d’attente afin que les visiteurs gagnent du temps et qu’ils soient accueillis dans de meilleures conditions.

      Point de vue de l'auteur : des solutions grâce au numérique vont pouvoir aider à solutionner le problème lié à l'affluence. C'est ce point de vue qui sera développé dans l'article. Il comporte aussi des arguments épistémiques inductifs sous forme d'exemples qui permettent de généraliser : en partant de ces exemples, on peut en déduire qu'il y a de nouvelles approches liées au numérique.

  16. Mar 2020
    1. Earlier this year it began asking Europeans for consent to processing their selfies for facial recognition purposes — a highly controversial technology that regulatory intervention in the region had previously blocked. Yet now, as a consequence of Facebook’s confidence in crafting manipulative consent flows, it’s essentially figured out a way to circumvent EU citizens’ fundamental rights — by socially engineering Europeans to override their own best interests.
    2. The deceitful obfuscation of commercial intention certainly runs all the way through the data brokering and ad tech industries that sit behind much of the ‘free’ consumer Internet. Here consumers have plainly been kept in the dark so they cannot see and object to how their personal information is being handed around, sliced and diced, and used to try to manipulate them.
    3. design choices are being selected to be intentionally deceptive. To nudge the user to give up more than they realize. Or to agree to things they probably wouldn’t if they genuinely understood the decisions they were being pushed to make.
  17. Feb 2020
  18. Jul 2019
  19. Feb 2019
    1. While selecting the best protein supplement for muscle gain, you should consider the following things like its packaging date and freshness, ingredients contained in the protein powder, a nutritional diet of the cows. All you need to do is check your requirement and opt for the one that suits you the best. Include whey protein powder in your diet as per expert suggestion which help us to gain muscle mass quickly.

    1. There are some facts that need to be considered before choosing a protein supplement as a muscle gain supplement. While selecting it know what ingredients are used in whey protein powder, it’s packaging and freshness, nutritional diet of the cows. Now there is a rise in demand for the best protein supplement for muscle gain. But don’t confuse while selecting it. Select the one which contain all the essential qualities which you want.

  20. Nov 2018
    1. We know that protein is essential for building muscle mass as well as for lean mass and if you are searching for best protein powder supplement. Then, your search for that ends at Avvatar India as it introduced Muscle gainer pack which complete the protein level in your body and helps to achieve your goal of building muscle mass.

  21. Apr 2018
    1. Avvatar India introduced best whey protein supplement which contain various nutrition content like protein, calcium, carbohydrates, fibre, glutamic acid and BCAA. Our protein powder helps to build lean muscle and maintain a healthy weight. We made it from fresh cow milk and now you get it in chocolate flavor.

  22. Oct 2016
    1. He who was living is now dead We who were living are now dying

      The circle of life, revolves around death and life but also the in-between and what we don't know about the after life is a big mystery, which takes us back to the unseen, the living dead, or just the dead. It reminds me of the lilacs that bloom from dead land, which could possibly signify that even though we lose people, we also gain new life.