14 Matching Annotations
  1. Dec 2024
    1. Disease: Von-willebrand Disorder Type 2M

      Patient1: 13 YO male

      Patient2: 16 YO female

      Note they are siblings

      Variant: VWF NM_000552.5: c.5192C>T p.(Ser1731Leu), heterozygous variant, in A3 domain in exon 30

      Phenotype patient 1: several bleedings after tosillectomy, recurrent epistaxis, decreased VWF:CB ratio, decreased VWF:CB/VWF:Ag ratio

      Phenotype patient 2: menorrhagia, intermittent gum bleeding, easy bruising, decreased VWF:CB ratio, decreased VWF:CB/VWF:Ag ratio

      For both patients: VWF:CB ratio corresponds to collagen type 1, multimer analysis was normal, VWF:Ag, VWF:Ac, and factor VIII activity was normal.

      Family: Not listed

      Present in dbSNP (rs764077750)

      Present in gnomAD, rare MAF (ALL: 0.0012%)

      Predictions:

      SIFT- predicted deleterious (Score 0.01, median 3.34)

      MutationTaster- Predicted disease causing (probability score 1)

      PolyPhen2- Predicted probably damaging (Score 0.983)

      CADD score- 26.5

      Authors mention similar AA substitutions at the p.1731 position which leads to reduced binding of VWF to collagen in other patients.

      Authors also cite a functional human cell experiment in COS7 cell line which resulted in functional VWF defect.

      Authors conclude this novel variant as likely pathogenic.

  2. Feb 2024
    1. One of my inquiries was for anecdotes regarding mistakes made between the twins by their near relatives. The replies are numerous, but not very varied in character. When the twins are children, they are usually distinguished by ribbons tied round the wrist or neck; nevertheless the one is sometimes fed, physicked, and whipped by mistake for the other, and the description of these little domestic catastrophes was usually given by the mother, in a phraseology that is some- [p. 158] what touching by reason of its seriousness.

  3. Jun 2021
    1. Isabel: Did you have anyone to talk to about this or is this really something that you just had to go through individually?Angelo: My sister, me and my sister—my sister's one year older than me—it was basically me and her. If it was her being offered something, we would just console each other. We would just tell each other, "No, you did good. It doesn't matter if you don't get the reward, it doesn't matter if you don't get the prize, you did it, you got that mail certificate." So it was just me and my sister.Isabel: So like in those situations, you might receive potential opportunities but like, no, you can't pursue them?Angelo: Yes, it was very difficult.

      Time in the US, School, School, Working hard, Struggling, Feelings, Solidarity, Family, Immigration status, Lost opportunities

    1. Anita: Why didn't they stay behind?Luisa: I think my mom felt guilty. I think she didn't want me to be by myself. She felt guilty that she didn't allow me to apply for DACA, so she's like, "Okay. That's okay." Eventually my sisters are going to have to go through this and let's do it now so the change doesn't hurt them as much when it comes down to it. They had it a little easier, I think [Chuckles]. They didn't have to go through it twice, or maybe that's just my bitterness, but I had to go through that uprooting and going into a strange country twice [Chuckles]. They don't remember Mexico at all, so I don't think they remember any of the life that we had here.

      Leaving the US, Reasons for Exit, Following a loved one

    2. Luisa: I made the decision of returning, and I uprooted my sisters. My little sister was a year old when we left. She knew nothing about Mexico. She barely spoke Spanish, so I selfishly made everyone move back to Mexico.Anita: Because?Luisa: Because I wanted to continue my education.

      Leaving the US, Reasons for Exit, Higher Education in Mexico

    1. I feel like I kind of took the burden of kind of being the man of the house that, that kind of just wore me down. So my brothers and sisters seen that and I was kind of like the black sheep, but I was like an example. Like, "Oh, don't be like him." So I feel like I wasn't there to help them, or to actually guide them like a big brother should, but at least I was like, "Okay, don't be like him." You know what I mean?

      Time in US - homelife - family

    2. Yeah. My stepdad. She got with a guy before that and had a kid and then she got married to my stepdad.

      Time in US - homelife - stepfather

    3. Yes. A lot of them. A lot of things. If we didn't do, they probably would have had to do, because if it wasn't me, it would've been the next one. And they did have to go through that stuff too, in a way, because sometimes I couldn't do it, because I'd be in school doing something really, really important.

      Time in US - siblings also take responsibilities - employment

    4. So, I was thinking like, "Why do you want us back? You say you didn't want us.” Little did I know all that. She told me all this stuff that happened and I just started busting down and crying. And I was always mean to my little stepsister too. But once I learned about how my dad, when she was a newborn, put her in the closet with my mom—got my mom butt naked and put her in the closet—and left her there and then took us to Texas… I used to be mean to my little sister, but after I heard that, I was just like—me and her just got close and stuff.

      Time in US - homelife - family - violence

    5. He took us to Texas for two years. We were actually on the news as missing children. If you look me up, I have all our photos. We were gone for two years, and the reason that they found us was because my dad was actually trying to rob a wheel store—rim store.

      Time in the US - homelife - domestic abuse - kidnapping

    6. So I was with my two little brothers and my little sister was born by that time. She was like three, four. We stayed a whole month with nobody just by ourselves in the house.

      Time in the US, Homelife, Being Alone; Time in the US, Homelife, Siblings, Caring for them

    7. Mike: And I remember it was me, my mother, my two little brothers—my sisters weren't born at the time—and the two coyotes, the people that cross you. Yeah, I remember that, because that was really, really hard. Just being three days in the desert, especially when you're like three or four, that right there just takes a toll—

      Mexico/ before the US, Migration from Mexico, Border Crossing, Coyotes

    8. And it took a whole month for the cops to come to my house. So I was with my two little brothers and my little sister was born by that time. She was like three, four. We stayed a whole month with nobody just by ourselves in the house. And I remember this—

      fear from the violence inflicted on them by father caring for younger siblings escaping the violence and being alone

    9. And I remember it was me, my mother, my two little brothers—my sisters weren't born at the time—and the two coyotes, the people that cross you.

      crossing over to the US - migration from Mexico