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Rare Diseases

Bah Humbug Vitamin D (12.20.2024)

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

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54K Peptic Ulcers Annually (12.13.2024)

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

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Drug-Free Remission in Giant Cell Arteritis is Uncommon

A Spanish retrospective registry study of patients with giant cell arteritis (GCA) found that 3-4 years after diagnosis, only 21% of patients with GCA successfully reached the sustained drug-free remission (SDFR). But if SDFR was achieved, the likelihood of experiencing recurrence was

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Way Behind in Pediatric Rheumatology

While adult rheumatology fellowships have surged in popularity and become quite competitive, more than half of pediatric rheumatology fellowship positions went unfilled in 2024, according to the National Resident Matching Program (NRMP). 

According to Medscape, across all 39

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Chikungunya marches on, at a cost

A recent article from BMC Global Health suggests that between 2011 and 2020, the mosquito-borne disease chikungunya, has disabled millions and likely amassed close to $50 billion in healthcare and disability-related costs in 110 countries. 

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FDA has granted Rare Pediatric Disease Designation (RPDD) to a new proprietary investigational drug, 101-PCG-005, a type IA prodrug of dexamethasone targetsing CD206+ macrophages. The intended use is in systemic juvenile idiopathic arthritis (sJIA) or Still's disease .… https://t.co/ErNWlva9Nd https://t.co/gc8cPNs3H1
Dr. John Cush @RheumNow( View Tweet )
Inebilizumab for Treatment of IgG4-Related Disease Inebilizumab is a monoclonal antibody that depletes CD19+ B cells and has been studied in adults with IgG4-related disease. In a phase 3, double-blind, randomized, placebo-controlled trial, it reduced IgG4-related disease… https://t.co/7PAmCn9O2I https://t.co/NmNA1p6GmI
Dr. John Cush @RheumNow( View Tweet )

Don’t Buy Guitars (12.6.2024)

This year at ACR24, the RheumNow faculty and reporters were prolific, generating >800 Tweets, 56 written articles, 117 Videos and 28 podcasts – all in 4 days! You can best review and learn ACR24 by A) Rheumatology Roundup; b) Topic Panel videos; and c) Topic podcasts.

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Inebilizumab for Treatment of IgG4-Related Disease

Inebilizumab is an monoclonal antibody that targets and depletes CD19+ B cells and has been studied in adults with IgG4-related disease. A phase 3, double-blind, randomized, placebo-controlled trial, and was shown to reduce IgG4-related disease
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Autoantibodies, found in over half of adult and paediatric patients with idiopathic inflammatory myopathies (IIMs), these correlate with clinical phenotypes, aiding in classification and prognosis. https://t.co/ZRXqtEec6s https://t.co/jkUe9bRlmU
Dr. John Cush @RheumNow( View Tweet )
@DrLisaCS distills the challenges of MCTD 👇 🔵Clinical phenotyping key to improve patient outcomes @jhrheumatology @RheumNow #acr24 https://t.co/APfXPwxvfE

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
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
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
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
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
Brian Jaros, MD @Dr_Brian_MD( View Tweet )

ACR 2024 - Day 1 Report

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
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
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
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
TheDaoIndex @KDAO2011( View Tweet )

ACR24 Preview Podcast (11.15.2024)

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

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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