Rare Diseases

@DrLisaCS distills the challenges of MCTD 👇 🔵Clinical phenotyping key to improve patient outcomes @jhrheumatology @RheumNow #acr24 https://t.co/APfXPwxvfE

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Caoilfhionn Connolly @CaoilfhionnMD( View Tweet )

Sullivan et al. Vasculitis in VEXAS. 81 patients. 27% vasculitis. Cutaneous SVV 20%, AAV 2.5%, cutaneous MVV 2.5%, LVV 2.5%. @RheumNow #ACR24 Abstr#2651 https://t.co/AV3RcuSKpV https://t.co/xrax025TzP

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Richard Conway @RichardPAConway( View Tweet )
A#2649 Relapsing Polychondritis Latent Class Analysis to define clinical phenotypes of heterogeneous dx Type 1- ear, nose, subglottic stenosis 2- tracheo/bronchomalacia 3- absence tracheomalacia Decision tree to classify pts in subgroups #ACR24 @RheumNow https://t.co/xpZedPVl7f

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Eric Dein @ericdeinmd( View Tweet )
A#2647 DADA2 cohort 101 pts in India Median delay dx 5 years - 5 pts of >20 yr - 39 pts w GI involvement- bad outcomes Skin most common - largely livedo, then ulcers/nodules CNS common w ischemia Many Rx before dx 12 deaths (11.8%) - 8 GI, 3 CVA, 1 suicide #ACR24 @RheumNow https://t.co/Q8kiVbJq8I

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Eric Dein @ericdeinmd( View Tweet )
Late-Breaking Abstract L07 The CLASS Project introduces new global classification criteria for Anti-Synthetase Syndrome (ASSD). Using the gold standard dataset, the key findings were: ✅ Definite ASSD: Sensitivity 94.3%, Specificity 99.7% ✅ Probable ASSD: Sensitivity 97.5%,… https://t.co/PtciIMTSsu https://t.co/jvJv2VNvHx

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Antoni Chan MD (Prof) @synovialjoints( View Tweet )
On now: The Great Debate - is MCTD a distinct clinical entity? @DrLisaCS reviews the history of MCTD classification criteria and its evolution Kasukawa criteria may be most sensitive in one cohort @RheumNow #ACR24 https://t.co/rDHafZVL1I

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Brian Jaros, MD @Dr_Brian_MD( View Tweet )
Meeting audience conference

ACR 2024 - Day 1 Report

Jack Cush, MD

ACR Convergence 2024 opened today with a full slate of presentations, posters and specialty meetings.  The meeting began with a flip: the plenary sessions started at 9AM and the poster session began at 1030 AM. Below are some of the highlights from day one in Washington, DC.

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A cohort of 9 patients with Anti-MDA5 DM with RPILD who was treated with combination of RTX, JAKi, and GCS had significantly bettery survival compared to historical cohort in this abstract! #ACR24 @RheumNow https://t.co/2t8xcYJ3UV

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Gabriela Martinez Zayas, MD @MartinezZayasMd( 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 )

Différent patterns of organ involvement in sarcoidosis @RheumNow #ACR24 #Sarcoidosis https://t.co/xigkS3vpUh

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Antoni Chan MD (Prof) @synovialjoints( View Tweet )
Sarcoid - diagnosis of probability! Biopsy not required! Can be bx-supported, not confirmed! Calcium in Sarcoid 10-20% hypercalcemic 30-50% hypercalcuria Sc: polyuria, dehydration, confusion, depression, fatigue, n/v, anorexia, abd pain, hematuria @RheumNow #ACR24 Rev Course https://t.co/B1srD3saij

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Eric Dein @ericdeinmd( View Tweet )
Don’t use ‘biopsy-proven’ to label sarcoidosis; use ‘biopsy supported’ as there are many causes of granulomatous inflammation. It’s happened to one of my pts who was diagnosed with “biopsy-proven” sarcoidosis - she actually had CVID with GLILD. #ACRReview #ACR24 https://t.co/it41va1K6g

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TheDaoIndex @KDAO2011( View Tweet )
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ACR24 Preview Podcast (11.15.2024)

Jack Cush, MD

ACR 2024 starts tomorrow. Here are a few previews of abstracts to be presented, along with my recommendations of sessions you don’t want to miss.

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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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Diagnosis and Management of Kawasaki Disease

EurekAlert!

The journal Circulation has published a comprehensive overview called “Update on Diagnosis and Management of Kawasaki Disease,” summarizing data published since the 2017 American Heart Association Scientific Statement on Kawasaki Disease related to diagnostic criteria, risk scores and

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Susac syndrome is a rare disease of young women characterised by microvessel occlusive Dz limited to the brain, retina, and inner ear. Rx is steroids, but Lancet Rheumatol Review of Rx shows no benefit of immunosuppressive Rx https://t.co/FvJa9OZLWL https://t.co/NVS0I3ofm8

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Dr. John Cush @RheumNow( View Tweet )
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COVID-19 and Long-Term Risk of Autoimmune and Autoinflammatory Disorders

Jack Cush, MD

A Korean population based study found that people infected with COVID-19, especially severe COVID-19, had an increased risk of autoimmune and autoinflammatory connective tissue disorders.

While several observational studies have suggested an association between COVID-19 and future

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Long,COVID,prison

Long Covid Defined

Jack Cush, MD

The National Academy of Medicine and New England Journal of Medicine have published a comprehensive definition of "long COVID".

While COVID-19 has infected over 7 million worldwide, it is estimated that 7% of adults (and >1% of children) or 15 to 20 million Americans have developed

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Advances in the treatment of autoimmune hepatitis

EurekAlert!

Autoimmune hepatitis (AIH) is a chronic, progressive liver disease caused by immune system dysregulation that targets the liver. If untreated, AIH can lead to severe complications, including cirrhosis and liver failure. 

An overview of AIH and treatment approaches was recently

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A Keto Diet for Autoimmune Disorders? Scientists have long suspected the keto diet might be able to calm an overactive immune system and help some people with diseases like multiple sclerosis. https://t.co/7mX6Ue4FdX https://t.co/qtOwdKfqu4

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Dr. John Cush @RheumNow( View Tweet )
Myelitis Associated With Rheumatologic Dz studied in 41 pts (age 44yrs; 95%women). Dx: SLE (41%), Sjogrens (24%), UCTD (15%), Overlap (12%) w/ APL syndr. Half Dx were AQP4-IgG Ab+ (90% w/ extensive cord lesions), 7% MOGAD Ab+, 44% "double-seronegative" myelitis.… https://t.co/or6vuCZASs https://t.co/UxzSR6yJO5
Dr. John Cush @RheumNow( View Tweet )
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Happy Diwali (11.1.2024)

Jack Cush, MD

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

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dupuytrens

Treatment Options for Dupuytren’s Contracture

Jack Cush, MD

The NEJM reports that in a randomized, controlled, head to head trial, collagenase injections were non-inferior to limited fasciectomy in the treatment of Dupuytren’s contracture.

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Blue Collar Arthritis (10.25.2024)

Jack Cush, MD

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

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UK Biobank study of 391 481 individuals found that a high polygenic risk score (PRS) for Hidradenitis suppurativa (HS) was assoc w/ increased risk of incident coronary artery Dz, diabetes, High LDL/TG and CRP https://t.co/ZS4w4hooKB https://t.co/DUXoFHMBqR

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Dr. John Cush @RheumNow( View Tweet )

Recent Blogs

Choice Overload (and the Way Out)

Jack Cush, MD
paint,choice,overload,color
I recently overheard a very good practicing rheumatologist complain, “why do I need yet another drug for psoriatic arthritis? I have more treatment choices than I have actual PsA patients who need a new or better drug”. Read Post

Best of 2022: Five Mistakes When Diagnosing Still’s Disease

Jack Cush, MD
Thermometer
Adult-onset Still's presents an interesting and diagnostic challenge when encountered. Here are 5 tips to improve your diagnostic acumen for this febrile disorder. Read Post

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