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  1. Last 7 days
    1. Disease: Von-willebrand Disorder Type 2B, Noncanonical

      Patient: 55 YO, Italian male

      Note: these heterozygous variants are in cis mutations

      Variant1: VWF NM_000552.5 c.2771G>A p.(R924Q), in exon 21, D'D3 domain affected

      Variant2: VWF NM_000552.5 c.6532G>T p.(A2178S), in exon 37, D4 domain affected

      Phenotypes: Mucosal and cutaneous bleeding, low VWF antigent and VWF activity, mild thrombocytopenia, increased ristocetin-induced platelet aggregation, deficiency in high-molecular-weight multimers. Epistaxis, repeated GI bleeding, easy bruising, ISTH BAT score of 7.

      Note: Proband initially diagnosed with VWD type 1 in 2010 but later re-diagnosed as VWD-Type 2.

      Family: No reported family history of bleeding, parents unable to be included in family work-up as they were deceased by time of study. Paternity test was performed for family, parental link established. Patient's daughter does not present the same mutation noted in proband but has heterozygous polymorphic variant inherited from mother which is: VWF NM_000552.5 c.3379C>T p.(P1127S), in exon 25. Daughter did not show menorrhagia or hemorrhagic disorder except for large hematoma on the thigh after trauma of moderate intensity.

      Molecular workup: Paternity test, Sanger-sequencing to validate genetic variants, multimer analysis with electrophoresis, platelet aggregation analysis with Ristocetin, electron micrographs to observe conformation differences.

      Prediction workup: Structural analysis with I-TASSER modeling program to identify perturbed structure. A2178S is predicted as tolerated in all in-silico systems used.

      Database Information: Effect of the R924Q mutation is noted in literature database but has contradicting reports of effects altering VWF levels. Some studies do report it as a polymorphic variant

      Variant is present in dbSNP database (rs33978901). MAF in European population 0.01< MAF< 0.02

      Effect of A2178S variant is present in dbSNP database (rs34230288), MAF = 0.02 in European population.

  2. Sep 2024
    1. For Italians to remain in-topic with foxes and dogs: "Ma la volpe col suo balzo ha raggiunto il quieto Fido" (But the fox with her leap has reached the quiet Fido* *common italian name for a dog)
  3. May 2024
  4. Apr 2024
    1. Giambattista Vico (born Giovan Battista Vico /ˈviːkoʊ/; .mw-parser-output .IPA-label-small{font-size:85%}.mw-parser-output .references .IPA-label-small,.mw-parser-output .infobox .IPA-label-small,.mw-parser-output .navbox .IPA-label-small{font-size:100%}Italian: [ˈviko]; 23 June 1668 – 23 January 1744) was an Italian philosopher, rhetorician, historian, and jurist during the Italian Enlightenment.
  5. Aug 2023
    1. Die italienische Klimatologin Serena Giacomin weist darauf hin, dass vor allem die Länge der aktuellen Hitzewellen und die Feuchtigkeit der Luft für die Gesundheit gefährlich sind, weniger die kurzfristige Höhe der Temperatur. Eine Kommunikation der Gefahre sei für die Betroffenen überlebenswichtig. Stereotype wie dass es im Sommer immer heiß sei, vergrößerten das Risiko.

      https://www.repubblica.it/cronaca/2023/08/07/news/climatologa_serena_giacomin_prevenzione_afa_caldo-410373239/

  6. Mar 2023
  7. Aug 2022
    1. In Italian,however, note the different practice: quattrocento, for es-ample, means the century from 1 January 1400 to 31 Decem-ber 1499.
  8. Jun 2022
    1. “My family is Jewish, I grew up inan Italian neighborhood, and every girl who broke my heart was Irish.”

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  9. May 2022
  10. Apr 2022
    1. Dante wrote this Comedy not in highly regarded Latin, but in the spoken dialect of Tuscany. The decision helped turn that dialect into the legitimate language we now call Italian, a tribute to the importance of literature in shaping language.
  11. Jan 2022
    1. by Sforza Maria Sforza, then a visitor at Ferrara, writing from Belfior

      Should see about translating this

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  12. Oct 2021
  13. Sep 2021
  14. Jun 2021