28 Matching Annotations
  1. May 2022
    1. DICER1 syndrome encompasses a variety of benign and malignant manifestations including multinodular goitre

      Gene: DICER1 PMCID: PMC8451242 PMID: 34552563 Pathogenic Inheritance Pattern: Autosomal Dominant MultipleDiseaseEntities Disease Entity: DICER1 syndrome, multinodular goitre, cystic nephroma, anaplastic renal sarcoma, Wilms tumour, differentiated thyroid carcinoma, gynandroblastoma, ciliary body medulloepithelioma, embryonal rhabdomyosarcoma, pineoblastoma, pituitary blastoma, kidney cyst, pulmonary cyst, Sertoli-Leydig Cell Tumor. Mutation: Germline MultipleGeneVariants Variant & Clinvar IDs: c.3452_3453del (485534), c.316del (no ClinVar ID), c.171_172insAC (no ClinVar ID), c.3434del (no ClinVar ID), c.988C>T (933007), c.5388dup (no ClinVar ID) Zygosity: None provided. Case: At time of operation, the goitre patients living in Denmark were ages 21, 12, 21, 8, 14, and 16. Four underwent total thyroidectomies, and two underwent partial thyroidectomies. The patient originally aged 21 previously had a kidney cyst at age 14 and a pulmonary cyst at an unknown age. The patient aged 14 at time of partial thyroidectomy later manifested a Sertoli-Leydig Cell Tumor at age 15. All six patients were female. CasePresentingHPO: None provided. CasePreviousTesting: thyroidectomy gnomAD: ENSG00000100697.10, https://gnomad.broadinstitute.org/gene/ENSG00000100697 Mutation Type: Frameshift, Nonsense

  2. Apr 2022
  3. Feb 2022
    1. APPG on Coronavirus. (2022, January 18). 🗣Dr.Claire Steves continued: “Looking in the national core studies, from cohort studies across the UK we’ve looked at 10 different longitudinal studies. Our best estimates are that about 5% of middle aged people are experiencing long term.. 27/ #APPGCoronavirus #LongCovid [Tweet]. @AppgCoronavirus. https://twitter.com/AppgCoronavirus/status/1483453895061999618

  4. Oct 2021
    1. Singanayagam, A., Hakki, S., Dunning, J., Madon, K. J., Crone, M. A., Koycheva, A., Derqui-Fernandez, N., Barnett, J. L., Whitfield, M. G., Varro, R., Charlett, A., Kundu, R., Fenn, J., Cutajar, J., Quinn, V., Conibear, E., Barclay, W., Freemont, P. S., Taylor, G. P., … Lackenby, A. (2021). Community transmission and viral load kinetics of the SARS-CoV-2 delta (B.1.617.2) variant in vaccinated and unvaccinated individuals in the UK: A prospective, longitudinal, cohort study. The Lancet Infectious Diseases, 0(0). https://doi.org/10.1016/S1473-3099(21)00648-4

    1. Tartof, S. Y., Slezak, J. M., Fischer, H., Hong, V., Ackerson, B. K., Ranasinghe, O. N., Frankland, T. B., Ogun, O. A., Zamparo, J. M., Gray, S., Valluri, S. R., Pan, K., Angulo, F. J., Jodar, L., & McLaughlin, J. M. (2021). Effectiveness of mRNA BNT162b2 COVID-19 vaccine up to 6 months in a large integrated health system in the USA: A retrospective cohort study. The Lancet, 398(10309), 1407–1416. https://doi.org/10.1016/S0140-6736(21)02183-8

    1. Meuris, C., Kremer, C., Geerinck, A., Locquet, M., Bruyère, O., Defêche, J., Meex, C., Hayette, M.-P., Duchene, L., Dellot, P., Azarzar, S., Maréchal, N., Sauvage, A.-S., Frippiat, F., Giot, J.-B., Léonard, P., Fombellida, K., Moutschen, M., Durkin, K., … Darcis, G. (2021). Transmission of SARS-CoV-2 After COVID-19 Screening and Mitigation Measures for Primary School Children Attending School in Liège, Belgium. JAMA Network Open, 4(10), e2128757. https://doi.org/10.1001/jamanetworkopen.2021.28757

  5. Sep 2021
    1. Hippisley-Cox, J., Coupland, C. A., Mehta, N., Keogh, R. H., Diaz-Ordaz, K., Khunti, K., Lyons, R. A., Kee, F., Sheikh, A., Rahman, S., Valabhji, J., Harrison, E. M., Sellen, P., Haq, N., Semple, M. G., Johnson, P. W. M., Hayward, A., & Nguyen-Van-Tam, J. S. (2021). Risk prediction of covid-19 related death and hospital admission in adults after covid-19 vaccination: National prospective cohort study. BMJ, 374, n2244. https://doi.org/10.1136/bmj.n2244

  6. Aug 2021
  7. Jul 2021
    1. Regev-Yochay, G., Amit, S., Bergwerk, M., Lipsitch, M., Leshem, E., Kahn, R., Lustig, Y., Cohen, C., Doolman, R., Ziv, A., Novikov, I., Rubin, C., Gimpelevich, I., Huppert, A., Rahav, G., Afek, A., & Kreiss, Y. (2021). Decreased infectivity following BNT162b2 vaccination: A prospective cohort study in Israel. The Lancet Regional Health - Europe, 7, 100150. https://doi.org/10.1016/j.lanepe.2021.100150

  8. Jun 2021
    1. Li, X., Ostropolets, A., Makadia, R., Shoaibi, A., Rao, G., Sena, A. G., Martinez-Hernandez, E., Delmestri, A., Verhamme, K., Rijnbeek, P. R., Duarte-Salles, T., Suchard, M. A., Ryan, P. B., Hripcsak, G., & Prieto-Alhambra, D. (2021). Characterising the background incidence rates of adverse events of special interest for covid-19 vaccines in eight countries: Multinational network cohort study. BMJ, 373, n1435. https://doi.org/10.1136/bmj.n1435

  9. Apr 2021
    1. While there are certain things most users will anticipate with any interface, there may be expected affordances that are unique to your users and the cohort they represent
  10. Mar 2021
  11. Jan 2021
  12. Sep 2020
  13. Aug 2020
    1. Nguyen, L. H., Drew, D. A., Graham, M. S., Joshi, A. D., Guo, C.-G., Ma, W., Mehta, R. S., Warner, E. T., Sikavi, D. R., Lo, C.-H., Kwon, S., Song, M., Mucci, L. A., Stampfer, M. J., Willett, W. C., Eliassen, A. H., Hart, J. E., Chavarro, J. E., Rich-Edwards, J. W., … Zhang, F. (2020). Risk of COVID-19 among front-line health-care workers and the general community: A prospective cohort study. The Lancet Public Health, 0(0). https://doi.org/10.1016/S2468-2667(20)30164-X

  14. Jul 2020
    1. Fontanet, A., Grant, R., Tondeur, L., Madec, Y., Grzelak, L., Cailleau, I., Ungeheuer, M.-N., Renaudat, C., Pellerin, S. F., Kuhmel, L., Staropoli, I., Anna, F., Charneau, P., Demeret, C., Bruel, T., Schwartz, O., & Hoen, B. (2020). SARS-CoV-2 infection in primary schools in northern France: A retrospective cohort study in an area of high transmission. MedRxiv, 2020.06.25.20140178. https://doi.org/10.1101/2020.06.25.20140178

  15. Jul 2019
    1. Communities of practice are one of the ways in which experiential learning, social constructivism, and connectivism can be combined, illustrating the limitations of trying to rigidly classify learning theories. Practice tends to be more complex.
      • Constructivism - roots in the philosophical and psychological viewpoints of this century, specially Piaget, Bruner and Goodman. Learning occurs when the mind filters inputs from the world to produce its unique reality. The mind is believed to be the source of all meaning, direct experiences with the environment are considered critical. It crosses both categories by emphasizing the interaction between learner and the real world.

      • Social constructivism would emphasize critical experiences between the learner and other learners and mentors.

      • Connectivism is the integration of principles explored by chaos, network, complexity and self-organization theory. A lot of the content is now offloaded to the machine that was previously residing within the learner.

    1. Connectivism is the theory behind massive open online courses, MOOCs

      the author doesn't really elaborate as to how or why connectivism is the guiding theory behind moocs.