Genetics

#CRISPR reviewed in 👇 #fibroblasts Found deletion of certain genes Ex JIA had marked change in expression Yr in Preview ACR24 @RheumNow @ACRheum Dr Chris Ritchlin 👏 https://t.co/jnmtk1eXGp

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Janet Pope @Janetbirdope( View Tweet )
Severe thrombocytopenia (TP) is rare but linked to major organ involvement and poor prognosis in #SLE. Data from the RISE registry shows TP in 9.3% of SLE patients, with higher prevalence in males, African-Americans+ those with multiple comorbidities. #ACR24 @RheumNow abst#2680

Bella Mehta @bella_mehta( View Tweet )

#Scleroderma #molecular #signatures in #skin predict long term outcomes 👇worst with inflammatory signature This may have clinical and trial applicability Nice work! Abst0711 #ACR24 @RheumNow @ACRheum https://t.co/3CFxu6bACu

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Janet Pope @Janetbirdope( View Tweet )
Study on #SLE and ESRD using machine learning: Developed model to identify patients with SLE and ESRD Used NIH 'All of Us' dataset XGBoost outperformed Random Forest SDOH data improved model precision #ACR24 @rheumnow #MachineLearning abst#1876 https://t.co/PQ7u4Pj5OH

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Bella Mehta @bella_mehta( View Tweet )
Abstract 1873: The impact of urbanization on lupus nephritis mortality is complex. Race/ethnicity + income modify the effects - Income ≥$50k + living in suburbs associated with lower odds of mortality due to LN in racial/ethnic minorities @RheumNow #ACR24

Akhil Sood MD @AkhilSoodMD( View Tweet )

Why is there female predominance in #SLE - the extra X chromosome in females (XX) may not be inactivated properly- usually maintained by the long non-coding RNA #Xist #ACR24 abst#2599 @RheumNow https://t.co/C9Qj5zSnpN

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Bella Mehta @bella_mehta( View Tweet )
Abstract 1876: Developed a machine learning model w/ #SDoH covariates to accurately identify patients with SLE and ESRD in NIH All of US dataset @RheumNow #ACR24 https://t.co/TLDSiBZZPs

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Akhil Sood MD @AkhilSoodMD( View Tweet )
A#2528 Hes1/Piezo1 Pathway - role in osteocyte response to mechanical stimulus Yoda1 - Piezo1 agonist shown to help fx healing in mice Piezo1 decrease in GIOP Basic sci research shows activation of pathway promotes mechanical stress response, decr GIOP #ACR24 @RheumNow

Eric Dein @ericdeinmd( View Tweet )

A#2530 ANA reactive CD4 cells: elevated B cell help activation in SjD Unique autoreactive T cell cluster in SSc shows CD4+ TRAIL+ IFN type I - unique to SSc Leads to decrease activation of APCs, decrease CD4 T effector fxn @RheumNow #ACR24 https://t.co/4JnA3SpVM8

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Eric Dein @ericdeinmd( View Tweet )
Now we have GWAS, we are getting polygenic risk scores for RA, and we can see what disease risks cluster with RA risk. RA genetic risk clusters with risk for: type 1 diabetes thyroiditis multiple sclerosis What draws these diseases together? #ACR24 ABST1365 @RheumNow https://t.co/28gU1nBEUG

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David Liew @drdavidliew( View Tweet )
#1689: race-neutral 🫁 function equations in SSc improve equity: 🔹 Race-specific equations underestimate disease severity in Black patients. 🔹 Switching to race-neutral reclassified 45% of Black patients to more severe, 16% of White patients to less severe @RheumNow #acr24 https://t.co/BfK2PsCMX5

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Caoilfhionn Connolly @CaoilfhionnMD( View Tweet )
#2282 🔬 Personalised Approach to TNFi in RA 📊 N=50👇; 43 responders 🔑 Findings 💥TNFR2 rs1061622 polymorphism linked to TNFi response 💥 MR/RR alleles ⬆️ 10X odds non-response v. MM allele (OR = 10.1,p=0.04) 🎯Genotyping may guide personalized RA therapy. #ACR24 @RheumNow https://t.co/MQKZUCEPxj

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Caoilfhionn Connolly @CaoilfhionnMD( View Tweet )
Navigating Positive ANA: Leveraging AI for better triage Abstract 1526: Markus et al. developed a machine learning model to predict progression to SLE, utilizing diagnoses, meds, procedures, and labs collected 2 years before and 5 years after +ANA. @RheumNow #ACR24 https://t.co/2zzSH8Pb0e

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Akhil Sood MD @AkhilSoodMD( View Tweet )
What is my risk of developing SLE? Abstract 0843 highlights a predictive model that accurately classifies SLE risk using genetics, lifestyle, and environmental factors. Model 3 (genetics + environment + lifestyle) performed the best compared to models 1 and 2. @RheumNow #ACR24 https://t.co/sk9oG0OY3W

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Akhil Sood MD @AkhilSoodMD( View Tweet )
#0066 🧬Epigenetics, Gut Microbiota & RA 🔬 110 RA patients v 110 controls 🦠 Collinsella abundance a/w DNA methylation changes (PRHOXNB, TBC1D22A) in RA, correlating with disease activity. 💡❔Role of gut microbiota & epigenetic markers as RA biomarkers #ACR24 @RheumNow https://t.co/yZn0KkRpE6

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Caoilfhionn Connolly @CaoilfhionnMD( View Tweet )
Abstr#0647 Toronto Lupus Clinic finds pericarditis in 20% of #SLE inception cohort, often with skin, heme, MSK, & renal involvement. Linked to younger age, White race, +SSB, & lower ACR/EULAR scores - Tx: GC, HCQ, AZA @RheumNow #ACR24

Akhil Sood MD @AkhilSoodMD( View Tweet )

A study in difficult-to-treat (D2T) ankylosing spondylitis (AS) reveals distinct characteristics in patients, including: - Higher BMI - Increased comorbidities - Presence of EAMs - HLA-B27 positivity is linked to higher odds of being D2T, highlighting potential genetic… https://t.co/XcShdxSwhm

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Antoni Chan MD (Prof) @synovialjoints( View Tweet )

Hypophosphatasia: 🦴Inherited disorder of metabolism with low tissue nonspecific alkaline phosphatase (TNSALP) 🦴Impaired bone mineralisation 🦴Accumulation of pyrophosphate 🦴1/100,000-300,000 🦴6 main forms @RheumNow #ACR24

Mrinalini Dey @DrMiniDey( View Tweet )

#ACR24 Ab#0771 ARID5B - transcription factor controls pathologic inflammatory fibroblast ARID5B: RA risk locus on GWAS, also link to SLE, Graves Binds to histone editors to epigenetically regulate fibroblast state ARID5B deletion incr inflamm response, overexpr decr @RheumNow https://t.co/ebKnX1uTuO

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Eric Dein @ericdeinmd( View Tweet )
Role of X chromosome in autoimmune disease? SLE increased in Klinefelter (XXY), decreased in Turner’s (XO) X chromosome inactivation with Xist Inductively transgenic expression of Xist in male mice induces autoantibodies Year in Review #ACR24 Bridges @RheumNow https://t.co/M88f0v0kpe

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Eric Dein @ericdeinmd( View Tweet )
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A Polygenic Model for Still's Disease

Jack Cush, MD

Adult-onset Still's disease (AOSD) is systemic autoinflammatory disorder of unknown etiology.  It is considered among the febrile autoinflammatory etiologies. Now a cohort study shows that AOSD patients may be enriched in germline variants usually limited

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Late-onset axSpA (LOS) is more likely to have peripheral arthritis. but less HLA-B27 & +FHx of AS/SpA. Portugese study of 2165 axSpA pts. 273 LOS (Sx onset >45 yrs; mean 51yrs; 55% men) had less B27 (51% vs 65%), +FHx (8% vs 14%), inflam LBP (81% vs 88%), Uveitis (13% vs 20%)… https://t.co/DgRUt1ejxT https://t.co/dGX2bfKhnK
Dr. John Cush @RheumNow( View Tweet )
Gut microbiome changes linked to onset of RA Changes in the make-up of the gut microbiome are linked to the onset of clinically evident rheumatoid arthritis in those at risk of the disease because of genetic, environmental, or immunological factors, suggests research published… https://t.co/gUgYLOKrI0 https://t.co/d75NmKup2U
Dr. John Cush @RheumNow( View Tweet )
171 SSc pts w/ hand Xrays and US found 20% w/ Joint involvement. Active Synovitis & tenosynovitis predicted by CRP>10mg/L (p = 0.013), fibrotic tenosynovitis on US (p = 0.005), anti-RNA polymerase III antibodies (p = 0.043) https://t.co/OIornA9sAA https://t.co/yXyX5k2yqD

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Dr. John Cush @RheumNow( View Tweet )
Scleroderma registry enrolled SSc pts w/o ILD. Incident ILD occurred in 199/969 (21%) pts over median 2.4yrs. Late onset SSc-ILD (>7yr from Raynauds) occurs 32% less. These pts were more White, w/ arthritis & RNA-polymerase III Abs, but have similar ILD Progression (vs… https://t.co/zdL4OPEPhi https://t.co/wl9XmsCHIE
Dr. John Cush @RheumNow( View Tweet )

Recent Blogs

Sexist Rheumatology

Kathryn H. Dao, M.D. , Jack Cush, MD
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Cush and Dao are at it again. This time it's whether men or women are better patients. Cush says men are better patients; Dao says Er, not so fast bub!  This is their light-hearted, gender biased debate on the best patients: Men vs. Women.

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