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rarediseaseadvisor.bsky.social
Rare Disease Advisor
@rarediseaseadvisor.bsky.social
100 followers 290 following 260 posts
Trusted knowledge base of practical information and resources focused on treating and diagnosing #RareDisease.

https://www.rarediseaseadvisor.com/
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rarediseaseadvisor.bsky.social
❄️ Cold weather isn’t a winter wonderland for everyone. For FA Contributor Lauren Gaczhias, it means extra challenges and big adjustments to her daily routine.

Read Lauren’s full column: https://bit.ly/4ofFppm

#RareDisease #RareVoices #FriedreichAtaxia #PatientVoices
November 25, 2025 at 6:00 PM
rarediseaseadvisor.bsky.social
In patients with indolent #SystemicMastocytosis (SM), treatment with #Avapritinib has been associated with statistically significant, clinically meaningful improvements in dermatologic manifestations of the disorder. Findings from the #PIONEER trial (#NCT03731260)

Learn more: https://bit.ly/4iqRVS0
Avapritinib Linked to Sustained Improvements in Skin Manifestations of Indolent SM
Patients with indolent SM and dermatologic involvement treated with avapritinib saw marked reductions in skin symptoms, skin color, and skin lesions.
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November 25, 2025 at 5:40 PM
rarediseaseadvisor.bsky.social
Clinical symptoms, serum biomarkers, and imaging parameters worsened substantially after 2 years in patients with transthyretin-mediated amyloid cardiomyopathy (#ATTRCM), whether or not they were treated with #Tafamidis. Study in Clinical Research in Cardiology.

Read more: https://bit.ly/4pun9d5
Tafamidis May Slow the Progression of ATTR-CM
Clinical symptoms, serum biomarkers, and imaging parameters worsened substantially after 2 years in patients with ATTR-CM, per a recent study.
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November 25, 2025 at 4:44 PM
rarediseaseadvisor.bsky.social
Patients with #Myelofibrosis (MF) are at substantially higher risk for pulmonary complications, especially bronchiolitis obliterans syndrome (#BOS), after hematopoietic cell transplantation (#HCT). Study in @astct.bsky.social

Read more: https://bit.ly/48hbqr8

#RareDisease #MF #Pulmonology
Patients With MF Face Increased Risk of Pulmonary Complications After HCT
Patients with MF are at substantially higher risk for pulmonary complications after hematopoietic cell transplantation.
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November 25, 2025 at 3:25 PM
rarediseaseadvisor.bsky.social
#MyelodysplasticSyndromes were independently associated with substantially elevated risks of ischemic heart disease, stroke, heart failure (HF), atrial fibrillation, and a composite cardiovascular outcome in a nationwide Japanese cohort. @cjcjournals.bsky.social

Learn more: https://bit.ly/4rm3YnF
MDS Identified as a Driver of Higher Cardiovascular Event Risk
MDS independently increased risks of ischemic heart disease, stroke, heart failure, atrial fibrillation, and composite CVD, a study found.
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November 21, 2025 at 9:41 PM
rarediseaseadvisor.bsky.social
Respiratory failure, a classic complication of #MyastheniaGravis (MG), also continues to have a growing impact on patient survival.

Read here: https://bit.ly/49tLRph

#RareDisease #RespiratoryFaliure #MedSky
Vascular Disease Reported to Be a Rising Cause of Death in MG
Vascular disease appears to be a rising cause of death among patients with myasthenia gravis (MG), according to a new study.
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November 21, 2025 at 6:57 PM
rarediseaseadvisor.bsky.social
Investigators have found that baseline T-cell activation patterns may predict which patients with immunoglobulin G4-related disease (#IgG4RD) are more likely to respond to #Abatacept, according to a letter to the editor in the European Journal of Internal Medicine.

Read more: https://bit.ly/3Me1kzY
Peripheral T Lymphocyte Activation State May Predict Abatacept Response in IgG4-RD
New research showed that patients with rare variants affecting the CTLA-4 pathway were more likely to respond to abatacept than those without the variants.
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November 21, 2025 at 6:09 PM
rarediseaseadvisor.bsky.social
Researchers developed a well-designed natural language processing (NLP) algorithm that can accurately extract #SystemicMastocytosis (SM)-related symptoms from unstructured clinical notes. Study in JAMIA Open.

Read more: https://bit.ly/4rvOyxh

#MedSky #RareDisease
New NLP Algorithm Accurately Detects SM Symptoms in Clinical Notes
Researchers developed a natural language processing algorithm that can accurately extract SM-related symptoms from unstructured clinical notes.
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November 21, 2025 at 5:09 PM
rarediseaseadvisor.bsky.social
Screening and preventive strategies for both hepatitis B virus (#HBV) and latent tuberculosis infection (#LTBI) are needed in the management of neuromyelitis optica spectrum disorder (#NMOSD). Study in Multiple Sclerosis and Related Disorders.

Learn more: https://bit.ly/4pmZg7h

#MedSky #NeuroSky
Patients With NMOSD May Need Monitoring for Hepatitis B and TB Reactivation
Screening strategies for both HBV and latent tuberculosis infection (LTBI) are needed in NMOSD management.
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November 20, 2025 at 9:38 PM
rarediseaseadvisor.bsky.social
Patients with chronic inflammatory demyelinating polyneuropathy (#CIDP) have reduced #SleepEfficacy and increased nocturnal arousals. Study in @europeanjournalofneurology.ean.org

Read here: https://bit.ly/4rgSsKc

#RareDisease #MedSky
Study Shows CIDP Negatively Affects Sleep
Patients with chronic inflammatory demyelinating polyneuropathy (CIDP) have reduced sleep efficacy and increased nocturnal arousals, according to a new study.
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November 20, 2025 at 9:08 PM
rarediseaseadvisor.bsky.social
An antimalarial drug, #Dihydroartemisinin (DHA), may restore antitumor activity of #Doxorubicin (DOX) in patients with #HepatocellularCarcinoma (HCC) with DOX resistance. Published in Digestive Diseases and Sciences.

Read more: https://bit.ly/48cAjVf

#RareDisease #MedSky
Dihydroartemisinin May Enhance Antitumor Activity of Doxorubicin in HCC
In preclinical cell and animal models, DHA and DOX were effective against HCC progression, and their combined use amplified these effects.
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November 20, 2025 at 5:55 PM
rarediseaseadvisor.bsky.social
Vaccination and #CancerScreening uptake improved over time among patients with #CLL who repeatedly completed annual health maintenance questionnaires, despite marked post-pandemic declines in several preventive care domains.

Read more: https://bit.ly/48qMBKM

#MedSky #Oncology
Repeated Surveys Strengthen Preventive Care Engagement in CLL
Annual surveys with reminders improved several vaccination and cancer screening rates in CLL despite post-pandemic declines.
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November 20, 2025 at 5:07 PM
rarediseaseadvisor.bsky.social
The severity of #FNAIT is driven by overall antihuman platelet antigen 1a (HPA-1a) antibody reactivity and integrin conformation rather than exclusive endothelial targeting. Study in @bloodjournals.hematology.org

Read more: https://bit.ly/3JJDJql

#RareDisease #Hematology #HPA1a #MedSky
FNAIT Severity Determined by Anti-HPA-1a Antibody Reactivity, Integrin Conformation
New research suggests FNAIT severity is driven by overall anti-HPA-1a antibody reactivity and integrin conformation, not exclusive endothelial targeting.
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November 19, 2025 at 9:11 PM
rarediseaseadvisor.bsky.social
Biochemical response rates were sustained through week 182 in patients with #PBC treated with #Elafibranor, and the proportion of patients with normal ALP levels remained consistent.

Read more: https://bit.ly/3K8Dipo

#RareDisease #ClinicalTrial #MedSky
Elafibranor Appears Beneficial in the Long Term in PBC
Elafibranor leads to rapid, sustained, and reproducible responses in clinically relevant biomarkers of fibrosis and cholestasis in PBC, according to a clinical trial.
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November 19, 2025 at 7:55 PM
rarediseaseadvisor.bsky.social
Significant dilation of the aortic valve annulus (AVA) is common in #Acromegaly, often accompanied by a reduced motion of the valve ring, according to a Hungarian study published in the Journal of Clinical Medicine.

Read more: https://bit.ly/4a3jvSR

#RareDisease #MedSky
AVA Dilation With Reduced Excursion Is Common in Acromegaly
Increased global LV circumferential strain was observed in patients with active acromegaly vs inactive disease or healthy controls.
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November 19, 2025 at 5:46 PM
rarediseaseadvisor.bsky.social
The online Self-administered Bleeding Assessment Tool (Self-BAT) has been validated as a screening instrument for potential carriership of #Hemophilia, #VonWillebrandDisease, and #PlateletFunctionDisorders.

Read here: https://bit.ly/3JSRSl0

#RareDisease #SelfBAT #Hematology #MedSky
Self-BAT Can Help Screen for Carriers of Bleeding Disorders, Such as Hemophilia
The Self-BAT uses simpler language and is a shorter questionnaire that can be completed from a person’s own home.
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November 17, 2025 at 9:11 PM
rarediseaseadvisor.bsky.social
Children with neurofibromatosis 1 (#NF1) may develop excess growth hormone and optic pathway glioma (#OPG), which can be treated with somatostatin analogs.

Read here: https://bit.ly/4pjDhy4

#RareDisease #Neurofibromatosis1 #GrowthHormone #MedSky
Somatostatin Analogs Effectively Treat Excess Growth Hormone in Pediatric NF1
An analysis of patient outcomes showed that treatment with somatostatin analogs was effective in normalizing insulin-like growth factor-1.
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November 17, 2025 at 8:02 PM
rarediseaseadvisor.bsky.social
Transthyretin amyloid (#ATTR) fibrils caused by the T60A TTR gene variant, which is associated with a mixed cardiac (#ATTRCM) and neuropathic (#ATTRPN), have a single morphology across patients and tissues. Study in Structure.

Read more: https://bit.ly/3M7nbsM

#RareDisease #Cardiology
Structural Homogeneity a Hallmark of Cardiac, Mixed Phenotypes in ATTR
ATTR fibrils caused by the T60A TTR gene variant have a single morphology but high compositional homogeneity, according to recent research.
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November 17, 2025 at 7:03 PM
rarediseaseadvisor.bsky.social
Patients with #Hemophilia who require total knee arthroplasty may benefit from increment in posterior tibia slope and posterior condylar offset ratio intraoperatively as it increases range of motion postprocedure. @haemophilia.bsky.social

Read here: https://bit.ly/48jCJSY

#RareDisease #Hematology
TKA Surgical Maneuvers in Hemophilic Arthropathy See Better Range of Motion
Certain indicators in total knee arthroplasty for hemophilia correspond with postsurgical range of motion outcomes, according to a recent study.
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November 17, 2025 at 5:51 PM
rarediseaseadvisor.bsky.social
A young man was simultaneously diagnosed with neurofibromatosis type 1 (#NF1) and #HypertrophicCardiomyopathy, highlighting how these 2 conditions often overlap. This case report was published in Circulation.

Read more: https://bit.ly/3XyxMiZ

#RareDisease #Cardiology #MedSky
Case Report: NF1-Associated Hypertrophic Cardiomyopathy
A young man with signs of heart failure was simultaneously diagnosed with both NF1 and hypertrophic cardiomyopathy.
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November 17, 2025 at 5:08 PM
rarediseaseadvisor.bsky.social
#PFFSummit: The Pulmonary Fibrosis Foundation wrapped up its largest conference in 25 years with the launch of a strategic 5-year plan aimed at accelerating research, expanding access to care, improving the lives of patients with #PF, and building community.

Learn more: https://bit.ly/4p8Y1s6
PFF Launches 5-Year-Plan to Boost Research and Expand Patient Access to Expert Care
The PFF aims to expand its PFF Care Center Network to 5 new states by 2030. It currently covers 38 states.
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November 17, 2025 at 4:08 PM
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#PFFSummit: José Vázquez, 55, PF patient and advocate, describing his advocacy work Nov. 15 during the 2025 PFF Summit in Chicago.

Image & quote taken by Senior Correspondent, Larry Luxner.

#RareDisease #PulmonaryFibrosis #Pulmonology #PatientAdvocacy
November 15, 2025 at 8:20 PM
rarediseaseadvisor.bsky.social
#PFFSummit: Ayodeji Adegunsoye, MD, PhD, associate director of the Interstitial Lung Disease Program at UChicago Medicine, speaking Nov. 14 at the PFF Summit in Chicago.

Image & quote taken by Senior Correspondent, Larry Luxner.

#RareDisease #PulmonaryFibrosis #COVID #Telehealth #ILD
November 15, 2025 at 6:30 PM
rarediseaseadvisor.bsky.social
#PFFSummit: @bhavikakaulmd.bsky.social speaking Nov. 15 at the 2025 PFF Summit in Chicago on “Understanding the Hidden Triggers and Management of Exposure-Related ILDs.”

Image & quote taken by Senior Correspondent, Larry Luxner.

#RareDisease #PulmonaryFibrosis #Pulmonology #AgentOrange #MedSky
November 15, 2025 at 6:20 PM
rarediseaseadvisor.bsky.social
#PFFSummit: Susan Jacobs, RN, speaking Nov. 15 at the 2025 PFF Summit in Chicago about the Supplemental Oxygen Access Reform (SOAR) legislation now pending in Congress.

Image & quote taken by Senior Correspondent, Larry Luxner.

#RareDisease #PulmonaryFibrosis #Pulmonology #SOAR #MedSky
November 15, 2025 at 4:00 PM