586 Matching Annotations
  1. Jan 2020
    1. 3
    2. 6
    3. 2
    4. macrocephaly
    5. macrocephaly
    6. macrocephaly
    7. 7
    8. 2
    9. 5
    10. 1
    11. 5
    12. 1
    13. 5
    14. 1
    15. 1
    16. 1
    17. 1
    18. muscular hypotonia
    19. muscular hypotonia
    20. muscular hypotonia
    21. muscular hypotonia
    22. muscular hypotonia
    23. muscular hypotonia
    24. seizures
    25. intellectual disability
    26. intellectual disability
    27. intellectual disability
    28. intellectual disability
    29. motor development
    30. motor development
    31. motor development
    32. motor development
    33. motor development
    34. motor development
    35. speech and language development
    36. speech and language development
    37. speech and language development
    38. speech and language development
    39. speech and language development
    40. developmental delay
    41. developmental delay
    42. developmental delay
    43. developmental delay
    44. developmental delay
    45. developmental delay
    1. primary infertility
  2. Dec 2019
    1. acute respiratory failure
    2. 54.0 cm (99th percentile)
    3. 2 cm (in acute setting)
    4. hyperechoic cortex of both kidneys
    5. aortic insufficiency
    6. +
    7. +
    8. Platyspondyly
    9. +
    10. +
    11. +
    12. <3rd percentile
    13. Splenomegaly
    14. <3rd percentile
    15. elevated methionine
    16. talipes equinovarus
    17. Neonatal jaundice
    1. failure to thrive
    2. hyperkinetic
    3. nystagmus
    4. right esotropia
    5. cortical edema
    6. downward gaze deviation
    7. tongue thrusting
    8. axial hypotonia
    9. appendicular spasticity
    10. could not verbalize
    11. lost voluntary mobility
    12. bilateral nonsynchronous spikes
    13. short non-provoked generalized tonic-clonic seizures
    14. intractable epilepsy
    15. ataxia
  3. Nov 2019
    1. hypertrophy of slow fibres
    2. fibre degeneration
    3. interstitial fibrosis
    4. hypertrophy of Type 1 (slow) fibres
    5. nemaline rods
    6. selective and marked atrophy of Type 2 (fast) fibres
    7. nasogastric tube feedin
    8. bulbar weakness
    9. non-invasive ventilation
    10. respiratory muscle weakness
    11. thoracic scoliosis
    12. thoracic scoliosis
    13. bilateral hip dislocation
    14. finger contractures
    15. knee contractures
    16. high arched palate
    17. hypotonia
    18. limb muscles
    19. weakness of facial
    20. rocker-bottom
    21. bilateral talipes
    22. overlapping digits
    23. overlapping digits
    24. polyhydramnios
  4. Oct 2019
  5. Sep 2019
    1. if n is very small (for example n = 3), rather than showing error bars and statistics, it is better to simply plot the individual data points.
    1. allele id lookup result

    2. Seizures
    3. 22 mo
    4. variant id lookup result

    5. constipation
    6. hairy elbows
    7. strabismus
    8. joint laxity
    9. fetal fingerpads
    10. mild hypertelorism
    11. long eyelashes
    12. mild exophthalmos
    13. broad forehead
    14. triangular face
    15. aggressivity
    16. no eye contact,
    17. social interaction
    18. autistic
    19. yes
    20. severe
    21. no speech
    22. 122 cm (−2.7)
    1. I 1

      CaseI1-2: Case I1 is the asymptomatic paternal grandfather of proband 2 in family 2. The heterozygous Thr295Ile substitution was found in this individual.

      CasePresentingHPOs: HP:0005543, (Reduced protein C activity)

      HPOsFreeText: Protein C activity was reduced: Normal range = 70-140% (actual = 39%). Patient also had reduced protein C antigen: Normal range = 70-130% (Actual=36%).

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: This individual was asymptomatic.

      CasePMIDs:

    2. grandmother (I3) of Proband 2

      CaseI3-2: Case I3 is the asymptomatic grandmother of proband 2 in family 2. The heterozygous Leu-34Pro substitution was found in this individual.

      CasePresentingHPOs: HP:0005543, (Reduced protein C activity)

      HPOsFreeText: Protein C activity was reduced: Normal range = 70-140% (actual = 48%). Patient also had reduced protein C antigen: Normal range = 70-130% (Actual=36%).

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: This individual was asymptomatic.

      CasePMIDs:

    3. asymptomaticmother (II4

      CaseII4-2: Case II4 is the asymptomatic mother of proband 2 in family 2. The heterozygous Leu-34Pro substitution was found in this individual.

      CasePresentingHPOs: HP:0005543, (Reduced protein C activity)

      HPOsFreeText: Protein C activity was reduced: Normal range = 70-140% (actual = 55%). Patient also had reduced protein C antigen: Normal range = 70-130% (Actual=34%).

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: This individual was asymptomatic.

      CasePMIDs:

    4. paternal relatives II2

      CaseII2-2: Case II2 is the asymptomatic paternal uncle of proband 2 in family 2. The Thr295Ile substitution was found in this individual.

      CasePresentingHPOs: HP:0005543, (Reduced protein C activity)

      HPOsFreeText: Protein C activity was reduced: Normal range = 70-140% (actual = 44%). Patient also had reduced protein C antigen: Normal range = 70-130% (Actual=33%).

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: This individual was completely asymptomatic.

      CasePMIDs:

    5. he asymptomatic fatherof Proband 2 (II3)

      CaseII3-2: Case II3 is the clinically asymptomatic father of proband 2 in family 2. The Thr295Ile substitution was found in this individual.

      CasePresentingHPOs: HP:0005543, (Reduced protein C activity)

      HPOsFreeText: Protein C activity was reduced: Normal range = 70-140% (actual = 43%). Patient also had reduced protein C antigen: Normal range = 70-130% (Actual=34%).

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: This individual was completely asymptomatic.

      CasePMIDs:

    6. Proband 2

      CaseIII1-2: Proband 2 (Case III 1 family 2) was a 19 year old male diagnosed with deep vein thrombosis in both legs since the age of 16. The family of this individual was asymptomatic with respect to thrombolytic disease and was non-consanguineous.

      CasePresentingHPOs: HP:0002625, HP:0005543, HP:0004936, (Deep venous thrombosis), (Protein C deficiency), (Venous thrombosis),

      HPOsFreeText: Deep vein thrombosis was in both legs since age of 16. This patient also had low protein C antigen.

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: This Case (Case III1-2) was designated as Proband 2.

      CasePMIDs:

    7. the father (I1) of Proband 1

      CaseI1-1: Case I1-1 is a 54 year-old male from Family 1. This individual has a heterozygous Asp255His mutation and is the father of the proband (II1-1). This individual was asymptomatic and lab results were within normal ranges.

      CasePresentingHPOs:

      HPOsFreeText:

      CaseNotHPOs:

      NotHPOsFreeText: Patient was completely asymptomatic.

      CaseAddInfo:

      CasePMIDs:

  6. Feb 2019
    1. Is the freedom of the individual served by neoliberalism? Centrality of the state for this freedom, which NL denies. “neoliberal thinkers deliberately sustain the fiction that ‘the market economy’ is a natural and spontaneous order that must be placed beyond politics … The question of how authority can be something other than domination and private power shaped the ideas and action of those who built the tradition of constitutional democracy in western societies from the 16th to the 20th centuries … basic needs were those that had to be met before the individual could practically enact the status of a free subject or person. It was such needs provision that made it possible for individuals to be both personally secure and to enjoy an equality of opportunity to develop as individuals free to discover their talents and gifts … the representation of market society as a spontaneous order is pitched to the punters while, within the tent of the doctrine’s initiates, it is fully understood that the state has to be both a strong state, and to be re-engineered in order to impose neoliberal institutional design.” YeatmanFreedom.pdf
    1. Speech and thought arc inseparable, in Vico'., view: They evolve together.

      Is this in terms of the individual or a communal/societal sense? Or both? I took it to mean both on the individual and societal levels, but I want to make sure I am interpreting this correctly.

  7. Jan 2019
  8. www.at-the-intersection.com www.at-the-intersection.com
    1. So I'd rather have, you know, five of these tabs open with the order book and trade history for something that I'm, uh, watching imminently than just have the chart open on one page and then the exchange with the order book, trade history on, on another tab. You know what I mean?
    2. no, and I was talking to her at the meetup and find it very useful to see all my accounts on these three exchanges on one screen. I don't want to have to log in to each one separately and keep track of how much coins I have on each. I would rather see this on one screen every morning. I pull up the screen easy to see. I don't necessarily need to trade from that screen, but I can just an idea of what holdings I have because I'm constantly rebalancing.
    3. So that's what I, that's why I had many exchanges, but then it became a hassle to manage and like anyway, I profited off that that was good. But in 2018 when it, when it became a bear market, that same strategy didn't work. And just because there was just the overabundance of coins, new coins, and they weren't blowing up like they used to. So I was like, why am I keeping all of this bitcoin scattered across diff or ether or rather scattered across different exchanges?
    4. Then once of use various tools to basically identify a potential trade, then I will basically figure out what the risk to reward is going to be for that trade.
    5. say try to focus on something that's really gonna drive you away from the competition, that people need. Because like I pay for multiple tools.
    6. Yeah, I mean, so if you have one tool, I mean, in theory it makes more sense because you're not all over the place.
    7. So, you know, it's just, it's a, it's a little repetitive.
    8. e? I use individualized applications for exc
  9. Sep 2018
  10. Apr 2018
    1. Thus the grass my horse has bit; the turfs my servant has cut; and the ore I have digged in any place, where I have a right to them in common with others, become my property, without the assignation or consent of any body. The labour that was mine, removing them out of that common state they were in, hath fixed my property in them.

      It would be very interesting to discuss this and the surrounding passages in light of the armed standoff that occurred in either Oregon or Washington about a year ago regarding the use of federal lands for grazing purposes by the local ranchers.

  11. Nov 2017
    1. And generally to form them to habits of reflection

      I like this piece of the document because I think it is extremely important that students today take the time to reflect and decompress. Stepping away from the grind of everyday school work periodically is essential for one's success. Many forget to practice the things they genuinely like to do in conjunction with the necessary practice of their studies. One must live, experience, and reflect back on these experiences in order to truly learn and develop their knowledge set over time. It is saddening to see hobbies and talents diminish in ones college years simply because they think there is not enough time for these non-academical activities. Self care is essential and doing the things one truly loves is a key component to practicing self care. This is something that has slowly diminished in the modernity of society and the its presence in the document shows that it is an important component of life and one's success. Additionally, it is one part of the document that is undeniably true or at least logical which in itself is worth noting.

    2. individual action shall leave us free to do whatever does not violate the equal rights of another.

      In this annotation, though I understand there is a contradictory aspect of this statement, (given UVa's history of gender and racial exclusion) that’s not where I’d like to focus. Rather, I ask, existentially, are there harms to societal freedom? Currently, our society values the idea of being an individual more and more. According to the famous sociologist Peter L. Berger, modern society's concept of dignity is reliant on an individual emancipating himself from certain societal rules. Our society's thirst for uniqueness can be seen as harmful. Later in the report, Jefferson writes about how molding individuals into habits of reflection will “render them examples of virtue to others & of happiness within themselves.” But, now I ask, is our modern day search for “dignity” getting in the way of what other’s consider virtuous? Increasingly people feel loneliness and estrangement from themselves and society. Can there be too much freedom?

  12. Oct 2017
    1. Education generates habits of application, order and the love of virtue; and controuls, by the force of habit, any innate obliquities in our moral organization.

      This is an interesting quote as it made me question how education generates habits of application? Is this implying that students of the University of Virginia will provide structure for future generations? “Habits of application” connotes that students will become ambitious, rather than waiting around for change, they will implement it themself. This task can often seem impossibly challenging in today’s times, however it is interesting to see how UVA’s mission was to generate powerful students since it’s creation. The “order and love of virtue” mentioned in this quote shows that education must be driven by passion. Jefferson’s entire perspective of his University was for it to be a center for lifelong learners as education should not have a limit. To lack passion is to be ignorant as there is no point to be informed without any desire or intent supporting it. Another question I had was whether the “moral organization” of society is pointing to the idea/conclusion that everyone should think in the same way? It is important to have a wide range of varying opinions; changes within societal culture and norms do not change without this element. How can there be “habits of application” if everyone is under one “moral organization”? This statement seems to contradict itself as they are developing students who will potentially change and challenge the moral organization of our society. Perhaps this was the point all along. My Doing Fieldwork engagement has taught me to look at each person as their own system, so it is interesting to see how each of our individual systems are supposed to conform to a single ideal and organization within our American society (not even considering all of the standards from the rest of the world).

    2. We should be far too from the discouraging persuasion, that man is fixed, by the law of his nature, at a given point: that his improvement is a chimæra, and the hope delusive of rendering ourselves wiser, happier or better than our forefathers were.

      This phrase reflects Thomas Jefferson's vision for the manner in which the University would educate its students. He believed that the value of higher education was that it allowed the individual to reflect on their personal vices, prejudices, and perspectives to strive for personal improvement. Similarly, In his novel, The Myth of Individualism, Peter Callero writes, "Our educational institutions from grade school to college are structured to enhance individual achievement in a competitive system of evaluation." In this way, Callero reveals Jefferson's motivation for an individualistic student, and subsequently an individualistic society. This notion is the foundation for a contemporary, highly individualistic society.

    3. Education, in like manner engrafts a new man on the native stock, & improves what in his nature was vicious & perverse, into qualities of virtue and social worth; and it cannot be but that each generation succeeding to the knowledge acquired by all those who preceded it, adding to it their own acquisitions & discoveries, and handing the mass down for successive & constant accumulation, must advance the knowledge & well-being of mankind:

      I found this quote interesting because it refers only to white men and how they can attain virtue and social worth from education but people of other races and backgrounds cannot. This reminds me of an article that I read in my engagement class about affirmative action because the minorities were pushing for equal treatment and the opportunity to learn and receive the benefits that education would give them. The author of the article, Richard Rodriguez, was not underprivileged as a kid because he could afford education, so he did not identify with the rest of the minorities because he claimed that have the opportunity to receive an education automatically makes you not a minority. His claim relates to this quote because he sees education as a privilege that brings you up in the world because it gives you virtue and many benefits. In the modern society, people of all races and backgrounds can reap the benefits of education and knowledge, not just white men, and they are able to pass on their knowledge to future generations. It is interesting to see how far society has come in who can receive education and what education can do for everyone in the world.

  13. Sep 2017
    1. the benefits & blessings of which the legislature now propose to provide for the good

      The authors of the Rockfish Gap Report affirm that religious worship is not conducive to a truly liberal arts education, going so far as to propose "no professor of Divinity." Yet religious language is smatter throughout the document (such as "blessings," "faithfulness," and "religious worship.") In the Virginia Statue for Religious Freedom which Thomas Jefferson also drafted, it is written,"all men shall be free to profess, and by argument to maintain, their opinions in matters of religion, and that the same shall in no wise diminish, enlarge, or affect their civil capacities." In this way, the assertions of both texts are consistent, but the biases of the authors are apparent in their use of religious language. This demonstrates that a collective view of what a society should be is not necessarily reflected in individual beliefs.

    2. The objects of this primary education determine its character & limits. These objects would be, To give to every citizen the information he needs for the transaction of his own business. To enable him to calculate for himself, and to express & preserve his ideas, his contracts & accounts in writing. To improve by reading, his morals and faculties. To understand his duties to his neighbours, & country, and to discharge with competence the functions confided to him by either.

      I think it is interesting that the author describes the type of education the University of Virginia strives to teach. Primary education is the foundation of knowledge that one needs to be able to grow intellectually and learn about the real-world. In society, the level and quality of education one receives is of utmost importance, especially in the United States, as it guides people's actions and shapes their outlook on life.

  14. Aug 2017
    1. Individual work I believe to be critical in some professions. Educational systems should incorporate more group activities. Learning in groups, I believe an individual can learn a lot about themselves and even the content being discussed. The article discussed how some can lean on others during group activities, and potentially hinder others from learning or reaching their full potential. I do not believe there is a perfect system, but I do see the need for more group activities in educational programs.

  15. Apr 2017
    1. pp. 9-10 what she saw as Being interesting about lists:

      • POSSIBILITY OF HIDING AND LURKING;
      • MINIMAL PERSONAL INFORMATION REQUIRED TO PARTICIPATE
      • Professor and UG could communicate as "virtual equals"
    2. abstract:

      Respondents reported varying degrees of social relationships formed with other participants on electronic mailing lists. These differences in experiences and expectations appeared to be related to the degree to which an individual felt in some way isolated from others, preferred communication styles, professional rank, and time constraints.

  16. Dec 2016
    1. Proctor: Against you? PuTNAM: Against him and all authority! PRoctoR: Why, then I must find it and join it.

      Proctor openly admits his disdain for Parris and the structure of Salem, making him an easy target for those looking for a scapegoat for the town's problems.

    2. Abigail: Oh,-we’’ll be whipped! Mary Warren: I never done none of it, Abby. I only looked! Mercy, moving menacingly toward Mary: Oh, you’’re a great one for lookin’’, aren’’t you, Mary Warren? What a grand peeping courage you have!

      Abigail and Mercy are trying to prevent Mary from confessing by creating a group mentality; they all acted together, and therefore either none or all will suffer the consequences.

  17. Jun 2016
  18. Dec 2015
    1. It is true that you are not participating in spiritualism. You are not communicating with a soul that has “passed on.” You are not speaking to an individuality still befuddled by the three-dimensional illusion of birth and death who thinks that he was ever born or ever died. I am not the medium through which the Christ-consciousness is revealing Itself as your conscious experience of Being. But, I do exist, as does every other individualization who has existed as an infinite aspect of Fourth-dimensional Conscious Being. There is infinite progression, even beyond the partial, three-dimensional-only view. It is simply ignorance—the inability to see infinitely—which would make one think that once the “mortal dream” is grown out of, there does not continue to be the infinite unfolding of Being as Conscious Being. This is true before or after the experience called death.

      Definition: Ignorance - the inability to see infinitely.

      More about Raj - not caught in belief of birth and death.

      There is an infinite progression of the unfolding of Being as Conscious Being. "Death" does not end it - it never ends.

      This is implied by WOM when it speaks of *The journey to the Kingdom and the Journey within the Kingdom."