15 Matching Annotations
  1. Apr 2025
    1. Disease: Von-willebrand Disease (Type 2A)

      Patient: 50 yo female

      Variant: VWF NM_000552.5 c:4232_4249del p.(Val411_Ile416del), Exon 28, heterozygous variant

      According to this paper, ACMG-AMP guidelines for interpreting this variant resulted in classification of likely pathogenic

      Phenotypes: increased bruising, fatigue, recurrent sinusitis, menorrhagia, neutropenia, anaemia. Reduction in high-molecular-weight multimers

      Family: segregation analysis showed two affected family members had the variant and two unaffected family members did not have variant.

      Note: Patient also has diagnosed Acute Myeloid Leukaemia (AML) NM_000546.6(TP53):c704A>G p.(Asn235Ser), listed as VUS and found by NGS

  2. Sep 2024
    1. Disease: Von Willebrand Disease (VWD)

      Patient: 18 yo, Male, heterozygote

      Variant: VWF NM_000552.5: c.5456_5842del p.(R1819_C1948delinsS)

      Was not present in gnomAD when searched

      Dominant negative effect

      Phenotypes:

      lower collagen-binding capacity

      History of bleeding (epistaxis)

      gum bleeding

      cutaneous bruises

      ADAMTS13 resistant

      Family: Mother, father, sister are asymptomatic

      Suggested as de novo, no picture found in patient's relative of the deletion, loss of A3 loop

  3. Mar 2024
    1. What if I don’t live in California?Only California residents have the right to data deletion under CCPA. (Why companies have the right to your data and you do not is another story. And here’s another. And another.)But some companies have said they’ll honor deletion requests no matter where you live. Spotify, Uber and Twitter said they treat deletion requests from any geographic location the same. Netflix, Microsoft, Starbucks and UPS have also said they’ll extend CCPA rights to all Americans.
    2. The company will probably ask for you to send over additional information or set up an appointment to verify your identity — that’s so no one can pretend to be you and steal or delete your data. To verify, you may need to confirm your account username and password, provide a piece of data like your phone number for the company to cross-check, or, rarely, show your government-issued ID. You should never be required to set up an account to get your data deleted, according to CCPA.
  4. Jul 2022
  5. May 2022
    1. GeneName: DICER1 syndrome (pleuropulmonary blastoma familial tumor susceptibility syndrome), PMID (PubMed ID): 29762508, HGNCID: 17098, Inheritance pattern: autosomal-dominant disease, Disease entity: Plueropulomary Blastoma, Mutation: Somatic, Zygosity: heterozygous, Variant: multiple variants, Family information: NA, Case: young children, CasePresentingHPO: N/A, CasePreviousTesting: N/A, Gnomade #: N/A , Mutation type: deletion

  6. Apr 2022
  7. Dec 2021
  8. datatracker.ietf.org datatracker.ietf.org
    1. The NFS version 3 protocol is designed to allow servers to be as simple and general as possible. Sometimes the simplicity of the server can be a problem, if the client implements complicated file system semantics. For example, some operating systems allow removal of open files. A process can open a file and, while it is open, remove it from the directory. The file can be read and Callaghan, el al Informational [Page 96] RFC 1813 NFS Version 3 Protocol June 1995 written as long as the process keeps it open, even though the file has no name in the file system. It is impossible for a stateless server to implement these semantics. The client can do some tricks such as renaming the file on remove (to a hidden name), and only physically deleting it on close. The NFS version 3 protocol provides sufficient functionality to implement most file system semantics on a client.
  9. Jun 2021
    1. El síndrome de deleción 22q11.2 es un síndrome de genes contiguos con una incidencia de un caso por cada 4.000-6.000 recién nacidos. Posee una amplia variabilidad clínica y sus características clínicas más frecuentes son cardiopatía conotruncal, anomalías palatinas, hipocalcemia, problemas de inmunidad y de aprendizaje, y un fenotipo facial característico. El objetivo de este estudio es revisar las formas de presentación y las manifestaciones clínicas de los niños con deleción 22q11.2 como guía para su diagnóstico precoz.

      Incidencia 4000 q 6000 RN