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Genetics

Who does worse with #SLE #nature vs #nurture South American #lupus #registries ⬆️ activity ⬆️damage ⬇️age ⬇️SES ⬆️SLE #antibodies #Gladel registry and others vs Europe Environment >genetics 🤔 #LUPUS2025 #45poster @RheumNow @gponsestel https://t.co/XjiXHAMuGm
Janet Pope @Janetbirdope( View Tweet )

Panacea of Prednisone & Cannabis (5.16.2025)

Dr. Jack Cush reviews the news, journal and regulatory reports from this week on RheumNow.com.  Interesting trends and results with prednisone in lupus, cannabis in RA and opioid deaths too!

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A brief history of familial Mediterranean fever - FMF is most common periodic fever syndr. an inherited polyserositis mainly affects Arabs, Armenians, Jews, & Turks. Hx may date back to 1802 & Heberden. Osler described 11 cases in 1895. 1st clear report 1945 by Siegal 10 pts. https://t.co/m20uO3bOoj
Dr. John Cush @RheumNow( View Tweet )
Single center study of 2741 ANA tests: 65% ANA negative, 31% ANA+ w/ nuclear staining patterns, & 2.0% ANA+ w cytoplasmic staining. Cytoplasmic - most were reticular, dense fine speckled next. Reticular assoc w/ primary biliary cholangitis (w/ Abs against M2). Dense fine https://t.co/JI7iGvw8xp
Dr. John Cush @RheumNow( View Tweet )
Using 16S rRNA gene amplification, Gut bacterial taxa from 53 CRPS pts compared to 52 controls. Differences were seen in microbiome and plasma short-chain fatty acid levels between CRPS patients and controls, w/ >90% accuracy https://t.co/TO7CCmmtD5 https://t.co/Gn9loJPNfM
Dr. John Cush @RheumNow( View Tweet )
Full read review of Neuropsychiatric SLE. NPSLE criteria includes 12 central & 7 peripheral findings (psych, cognitive, Sz, CVA/TIA, neuropathy, MS-like). NPSLE AutoAbs are many: Abs against APL, LAC, RP, NMDA, NMO/AQP4, EC, SBSN, UCH-L1, TP1, GAPDH, MAP2, U1RNP https://t.co/HvDX8wSuoB
Dr. John Cush @RheumNow( View Tweet )
45 southern African American SLE pts compared to multiethnic cSLE, AA pts had signif higher Dz activity & greater damage accrual. Their mean SLICC score was 8.4, SLEDAI 13, but was 7.4 @6 mos & 4,7 @1 yr. They traveled an avg distance 75 miles to see Rheum https://t.co/NMlT4uo8jn https://t.co/uG5ofMGE6O
Dr. John Cush @RheumNow( View Tweet )
Prevalence of ANCA Assoc Vasculitis (especially GPA) in Alaskan Natives (AN/AI) is high. GCA prevalence is lower than White populations, but higher than many others. AN/AI peoples w/ AAV & GCA may present at younger ages with more severe disease https://t.co/dhiu6sPGBk https://t.co/rNCo25HGcn
Dr. John Cush @RheumNow( View Tweet )
Systematic review shows PTSD is strongly assoc w/ an increased risk of developing SLE. 7 studies (5 prospect cohort) and 11614 SLE pts - 1,325 (11.4%) had comorbid PTSD, mostly females. All showed + association of PTSD & SLE, 3 showing 2fold incr risk of SLE. No genetic https://t.co/Xjya0QNznQ
Dr. John Cush @RheumNow( View Tweet )
Just published, a review of Inflammasomopathies: mechanisms and disease signatures - these are Gain-of-function mutations in inflammasome receptors leading to chronic inflammatory conditions. https://t.co/kDebFdXlx9 https://t.co/NeJrgI9eRV
Dr. John Cush @RheumNow( View Tweet )
Genetic Analysis of Asymptomatic Antinuclear Antibody Positive Patients A large scale genomic population study found antinuclear antibodies (ANA) in up to 14% of the population; most with ANA are asymptomatic, and ANA production is not associated with significant genetic risk. https://t.co/Ltqf1yaaoy
Dr. John Cush @RheumNow( View Tweet )
Genomics and Future Drug Targets for Osteoarthritis A Nature article details the results of an osteoarthritis, genome-wide association study meta-analyses across up to 489,975 cases and 1,472,094 controls, establishing 962 independent associations, 513 of which have not been https://t.co/OYyePkAeAM
Dr. John Cush @RheumNow( View Tweet )

Genetic Sequencing in Rheumatology

Genetic sequencing as a research and diagnostic tool has expanded in medicine and rheumatology. An interesting review in Arthritis and Rheumatology suggests that despite currently modest use, there will be an expanded role for genetic sequencing in the field of rheumatology. 

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Genetic Analysis of Asymptomatic Antinuclear Antibody Positive Patients

A large scale genomic population study found antinuclear antibodies (ANA) in up to 14% of the population; most with ANA are asymptomatic, and ANA production is not associated with significant genetic risk. 

Asymptomatic individuals who were either

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Genomics and Future Drug Targets for Osteoarthritis

EurekAlert!

A Nature article details the results of an osteoarthritis, genome-wide association study meta-analyses across up to 489,975 cases and 1,472,094 controls, establishing 962 independent associations, 513 of which have not been previously reported. Results were published this week in the journal

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Predictors of Developing RA

A prospective cohort study of seropositive arthralgia patients demonstrated that baseline characteristics and labs can be used to predict which arthralgia patients are at highest risk of developing rheumatoid arthritis (RA).
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Worse Outcomes in HLA-B27+ JIA Patients with juvenile idiopathic arthritis (JIA) who carried the HLA-B27 genetic marker tended to have worse long-term outcomes, including lower rates of drug-free remission, in a prospective Scandinavian study. https://t.co/VEKqHvO1qw https://t.co/49y0JQL0Gr
Dr. John Cush @RheumNow( View Tweet )

Cancer Survival with TNF Inhibitors (3.28.2025)

Dr. Jack Cush reviews the news and journal reports from this past week on RheumNow.com

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A comprehensive examination of the pathogenesis and recent advancements in Familial Mediterranean Fever (FMF). This condition results from autosomal recessive mutations in the MEFV gene, which codes for Pyrin, a crucial component of the NLRP3 inflammasome. These genetic https://t.co/XNV89LW893
Dr. John Cush @RheumNow( View Tweet )

Worse Outcomes in HLA-B27+ JIA

MedPage Today

Patients with juvenile idiopathic arthritis (JIA) who carried the HLA-B27 genetic marker tended to have worse long-term outcomes, including lower rates of drug-free remission, in a prospective Scandinavian study.

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Large GWAS study of smokers, shows that polygenic risk scores (PRS) for RA & ILD were assoc w/ their intended phenotypes in whites (OR 1.32 & 1.88, respectively) but no in blacks https://t.co/FflF2f1orq https://t.co/NlxcASrj9K
Dr. John Cush @RheumNow( View Tweet )

ERA, APPs, & Alpha GAL (3.21.2025)

Dr. Jack Cush reviews the news and journal reports from this past week on RheumNow.com.  Listen in for 2 new case questions - Ask Cush Anything.

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Axial Involvement in Psoriatic Arthritis

Analysis of a Greek Psoriatic Arthritis (PsA) cohort shows that nearly one quarter of patients have axial involvement, and among them, ∼30% have isolated spinal axPsA and nr-axSpA, respectively.

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World Changers (3.14.2025)

Dr Jack Cush and his podcast friends are out to change the world. Here is his weekly review of the news and journal reports from the past week on RheumNow.

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New insights into Moyamyoa a complex cerebrovascular disorder affecting children/young adults w/ carotid or CV vessel narrowing; leading to CVA, Sz, HA, TIA, Cognitive Sx. Genetic mutations add to succeptibility (RNF213, ACTA2, DIAPH1, HLA). DIfficult to Dx vs Atherosclerosis.… https://t.co/LqFcU0xO3J https://t.co/CileSRAZgU
Dr. John Cush @RheumNow( View Tweet )
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