@HildaLinnet

Hrafnhildur Runolfsdottir. MD, PhD. Resident in Internal medicine, researcher of APRT deficiency.

 Iceland
Joined May 2012
  • Tweets119
  • Following245
  • Followers124
5Media
An update on APRT deficiency, recently published in Pediatric Nephrology
American Society of Pediatric Nephrology@ASPNephMar 24
Review: Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadeninuria @ped_neph #openaccess buff.ly/ifexeeG

Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadeninuria

Pediatric Nephrology - Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder of purine metabolism causing 2,8-dihydroxyadenine urinary tract stones and crystal...

link.springer.com
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Hrafnhildur Runólfsdóttir retweeted
Runolfur Palsson@runolfpa21 Mar 2024
Huge milestone in the field of kidney transplantation. Congratulations to the MGH Transplant Team and best wishes to the patient for a speedy recovery. @mgh_transplant
MassGeneral News
@MassGeneralNews21 Mar 2024
The world’s first genetically edited pig kidney transplant into a living recipient was performed at Mass General last Saturday. Years of research, pre-clinical studies and collaboration by @mgh_transplant has led to this historic achievement. Learn more from the @nytimes:
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Runolfur Palsson@runolfpa30 Jan 2024
Framúrskarandi árangur Íslendinga í viðureigninni við faraldur COVID-19. landspitali.is/um-landspital…
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Hrafnhildur Runólfsdóttir retweeted
Mass General Brigham Nephrology@MGBKidneys21 Mar 2024
Landmark in Transplantation👑 Genetically-edited pig kidney with 69 genomic edits successfully transplanted into a living patient! Congrats to Dr. Riella, Dr. Kawai, Dr. Elias and the entire team! @LVRiella massgeneral.org/news/press-r…

World’s First Genetically-Edited Pig Kidney Transplant into Living Recipient Performed at Massach...

Massachusetts General Hospital announced the world’s first successful transplant of a genetically-edited pig (porcine) kidney into a 62-year-old man living with end-stage kidney disease (ESKD).

news.massgeneralbrigham.org
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Mögnuð stemning á Emirates í gær!
Runolfur Palsson@runolfpa1 Apr 2023
Ólýsanleg stemning á Emirates-leikvanginum í dag.
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Hrafnhildur Runólfsdóttir retweeted
Binding Site@TheBindingSite28 Sep 2022
In this video, Thorir Einarsson Long - Postdoctoral Researcher in the iStopMM study discusses how serum free light chains can be affected by kidney functionality. Watch it now: hubs.li/Q01njSMb0 #MultipleMyeloma #iStopMM
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Hrafnhildur Runólfsdóttir retweeted
Sigurdur Kristinsson@sykristinsson26 Sep 2022
New definition for light chain MGUS! Practice changing: New ref values for free light chains (FLC), kappa+ lambda in people with kidney dysfunction (GFR<60) just published: rdcu.be/cVw40 @thorirlong Avoid unnecessary consultations, bone marrows, and⬇️patient anxiety
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Þórir Long@thorirlong16 Sep 2022
Our paper were we redefine the reference intervals for serum FLCs and FLC ratio in individuals with chronic kidney disease using the #iStopMM data has been published! Full paper here: nature.com/articles/s41408-0… #mmsm #Nephrology Summary of the new reference intervals:
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So proud of my friend and colleague, @eliaseythorsson, and our COVID-19 research group @Landspitali
This Post is from an account that no longer exists. Learn more
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Hrafnhildur Runólfsdóttir retweeted
Vaka Sigurjonsdottir - MD, PhD@VakaKristin26 Jul 2022
Another Ph.D. paper published, co-first author with my amazing mentee, @KPiburnDO So proud of the work of our research team! cjasn.asnjournals.org/conten… @StanfordPedNeph @Landspitali @univmiami
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Hrafnhildur Runólfsdóttir retweeted
Hilma Hólm@hilmaholm20 Apr 2022
Our large study on the potential health sequelae of SARS-CoV-2 infection is now out as preprint, from deCODE genetics in Iceland #Covid_19 #LongCovid
Research Square Covid-19 Preprints@RS_COVID1919 Apr 2022
Symptoms, physical measures and cognitive tests after SARS-CoV-2 infection in a large population-based case-control study #covid researchsquare.com/article/r…

Symptoms, physical measures and cognitive tests after SARS-CoV-2 infection in a large population-...

Persistent symptoms are common after SARS-CoV-2 infection but the correlation with objective measures is unclear. We utilized the deCODE Health Study to compare multiple symptoms and physical...

researchsquare.com
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Hrafnhildur Runólfsdóttir retweeted
Vaka Sigurjonsdottir - MD, PhD@VakaKristin16 Mar 2022
Another Ph.D. paper published 💪🏻We have been using C1q-binding de novo DSA as a guide to ABMR therapy at Stanford for over a decade with routine DSA screening. This paper assesses the preformance of this individualized risk stratification system. frontierspartnerships.org/ar…
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Hrafnhildur Runólfsdóttir retweeted
Nature Biotechnology
@NatureBiotech16 Mar 2022
We continue to celebrate outstanding leaders in the biotech for #WomensHistoryMonth. Today we recognize Margret Thorsteinsdottir, professor at the University of Iceland and R&D director of ArcticMass, which provides high-quality bioanalytical services for the pharma industry
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Hægt er að veita nauðsynlega mannúðaraðstoð til íbúa í Úkraínu með eftirtöldum leiðum: SMS: Senda HJALP í símanúmerið 1900 (2.900 kr.) Aur: @raudikrossinn eða 1235704000 Kass: raudikrossinn eða 7783609 Söfnunarreikningur Rauða krossins: 0342-26-12, kt. 530269-2649
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Þórhildur Gyða@torii_9626 Dec 2021
Að greinast með covid í USA; þurfti að bíða í 4 daga eftir PCR niðurstöðu (tekur 3-5 daga). Það fylgir mér engin eftir, sér engin um að rekja smitið mitt eða athuga með heilsuna mína. Verum þakklát fólkinu heima á Íslandi sem vinnur þessa göfugu og mikilvægu vinnu❤️
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Sæmundur Rögnvaldsson, MD, PhD@SaemundurMD4 Dec 2021
Our paper just out in the @BloodCancerJnl! MGUS patients are NOT more susceptible to COVID-19 or severe COVID-19. Looking forward to presenting these important and reassuring findings at #ASH21 next week #mmsm @eliaseythorsson @sykristinsson rdcu.be/cCzUX
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Hrafnhildur Runólfsdóttir retweeted
Þórir Long@thorirlong9 Nov 2021
Honored to be a part of this! Bloody exciting times 🩸 #mmsm
Sigurdur Kristinsson@sykristinsson9 Nov 2021
Four oral and 2 poster presentations at #ASH21 from the @iStopMM study (w/ 6 different presenters)! My small but highly enthusiastic group will share 1st results after screening >75,000 Icelanders for MGUS Such a fun phase with exciting results pouring in! #mmsm 🧵Abstracts:
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So proud of my husband and his research in early childhood education @BEgilsson tandfonline.com/eprint/DXZGU…
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Goldfarb on kidney stones - definitely worth a listen!
The Curbsiders@thecurbsiders4 Oct 2021
Do #kidneystones have you saying “this too shall pass?” Our guest Dr. David S. Goldfarb (@weddellite) can help! In this episode he takes us through risk factors as well as treatment & prevention for urinary stone disease #MedEd #FoamEd #Kidney #NephTwitter mailchi.mp/0515ad83cec3/298-…
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Final PhD paper published in @ejhg_journal on the allele frequency of pathogenic variants in APRT deficiency. @RKSC12
European Journal of Human Genetics@ejhg_journal23 Jul 2021
allele frequency of variants causing Adenine phosphoribosyltransferase deficiency. nature.com/articles/s41431-0…

Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency

European Journal of Human Genetics - Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency

nature.com
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