Researchers developed a #MachineLearning model that can be used to differentiate between immunoglobulin G4-related disease (#IgG4RD) associated with #Sialadenitis and primary Sjögren’s syndrome (#pSS). Study in International Dental Journal. Read more: https://bit.ly/3XTW4UI #RareDisease #MedSky

Low serum #TestosteroneLevels in men with #FibroticInterstitialLungDisease, including #ProgressivePulmonaryFibrosis (PPF), have been associated with an increased risk of mortality compared to patients with normal testosterone levels. @btsrespiratory.bsky.social#TestosteroneLevels#FibroticInterstitialLungDisease#ProgressivePulmonaryFibrosisead here: https://bit.ly/3JYsMBk

#HDFN remained the leading indication for exchange transfusion, accounting for 67% of cases, primarily driven by anti-D alloimmunization (65.9%). Read here: https://bit.ly/4iqJaHq #RareDisease #Hematology #MedSky

The eyes of patients with #NMOSD appear to exhibit significantly thinner #ChoroidalThickness and smaller total choroidal and luminal areas than eyes of patients with #MultipleSclerosis (MS), regardless of #OpticNeuritis history. Learn more: https://bit.ly/4p1MYBi #RareDisease #MedSky

Happy HallowThankMas! 🎃 🦃 🎄 ATTR-CM Contributor Faye Adams is celebrating the season a little differently this year — by creating moments whenever she can, not just when the calendar says it’s time. ✨Read more here: https://bit.ly/47ZFb10 #RareDisease #ATTRCM #RareVoices #MedSky

A woman with indolent #SystemicMastocytosis presented with #Anaphylaxis following consumption of ackee fruit. Case report in @annalsacaai.bsky.social#SystemicMastocytosis#Anaphylaxis Read here: https://bit.ly/4oguPOW #RareDisease #MedSky #Immunology

Immunoglobulin G4-related disease (#IgG4RD) is associated with distinct allergen-specific IgE and IgG4 signatures, with certain environmental antigens linked to organ-specific involvement. Study in @allergy-eaaci.bsky.social#IgG4RD Read here: https://bit.ly/43SpXbH #RareDisease #MedSky

❄️ 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

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

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

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#Myelofibrosis#BOS#HCTRead more: https://bit.ly/48hbqr8 #RareDisease #MF #Pulmonology

#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#MyelodysplasticSyndromes Learn more: https://bit.ly/4rm3YnF

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

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

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

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 chronic inflammatory demyelinating polyneuropathy (#CIDP) have reduced #SleepEfficacy and increased nocturnal arousals. Study in @europeanjournalofneurology.ean.org#CIDP#SleepEfficacy Read here: https://bit.ly/4rgSsKc #RareDisease #MedSky

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

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

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#FNAIT Read more: https://bit.ly/3JJDJql #RareDisease #Hematology #HPA1a #MedSky

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

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

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

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

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

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#Hemophilia Read here: https://bit.ly/48jCJSY #RareDisease #Hematology

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

#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

#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

#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

#PFFSummit: @bhavikakaulmd.bsky.social#PFFSummitspeaking 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

#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

#PFFSummit: Harold Collard, MD, professor of medicine and health policy at @ucsfhealth.bsky.social#PFFSummitspeaking Nov. 15 at the 2025 PFF Summit in Chicago. Image & quote taken by Senior Correspondent, Larry Luxner. #RareDisease #PulmonaryFibrosis #Pulmonology #HealthPolicy

#PFFSummit: James Fraser, PhD, of @ucsfhealth.bsky.social, speaking Nov. 15 at the PFF Summit in Chicago on “How AI is Transforming Pre-Clinical Drug Discovery.” @fraserlab.com#PFFSummit Image & quote taken by Senior Correspondent, Larry Luxner. #RareDisease #PulmonaryFibrosis #AI #Pulmonology #MedTech

#PFFSummit: Jessica Shore, PhD, senior VP of clinical affairs and quality at the Pulmonary Fibrosis Foundation, speaking Nov. 15 at the PFF Summit in Chicago. Image & quote taken by Senior Correspondent, Larry Luxner. #RareDisease #PulmonaryFibrosis #Pulmonology #MedSky

#PFFSummit: Karen Smoot of Albuquerque, New Mexico, PFF patient ambassador who lives with both #IdiopathicPulmonaryFibrosis and #PulmonaryArterialHypertension. Smoot, 79, spoke Nov. 14 at the 2025 PFF Summit in Chicago Image & quote taken by Senior Correspondent, Larry Luxner. #RareDisease #MedSky

Patients with #HereditaryAngioedema (HAE), particularly those without attacks, exhibited more positive emotional patterns than healthy controls, and higher positive affect correlated with improved quality of life. Published in Scientific Reports. Learn more: https://bit.ly/3LGlPoP #RareDisease

A pattern recognition approach is key to identifying and diagnosing #AutoimmuneNeuropathies other than typical chronic inflammatory demyelinating polyneuropathy (#CIDP) and its variants. Read here: https://bit.ly/4i1Sxx8 #RareDisease #MedSky

A consensus project has highlighted hospital pharmacy-led priorities to improve care for patients with #HereditaryAngioedema (HAE) in Spain. Report in European Journal of Hospital Pharmacy @eahpofficial.bsky.social#HereditaryAngioedema Read here: https://bit.ly/3JWmJwP #RareDisease #MedSky

Early treatment with #Rituximab may provide better outcomes for patients with new-onset generalized #MyastheniaGravis (MG), according to the long-term follow-up results of the #RINOMAX clinical trial published in the @europeanjournalofneurology.ean.org#Rituximab#MyastheniaGravis#RINOMAXRead more: https://bit.ly/47G1Krl #MedSky

#PFFSummit: Imre Noth, MD, professor at the University of Virginia in Charlottesville, speaking Nov. 14 at the 2025 PFF Summit in Chicago. Image & quote taken by Senior Correspondent, Larry Luxner. #RareDisease #PulmonaryFibrosis #Pulmonology #MedSky

#PFFSummit: Marilyn Glassberg, MD, professor at @loyolachicago.bsky.social’s Stritch School of Medicine, speaking Nov. 14 at the 2025 PFF Summit in Chicago. Image & quote taken by Senior Correspondent, Larry Luxner. #RareDisease #PulmonaryFibrosis #MedSky

#PFFSummit: Donna Dinkin, DrPH, a PFF patient ambassador with #Scleroderma-associated #InterstitialLungDisease (ILD), speaking Nov. 14 at the 2025 PFF Summit in Chicago. Image & quote taken by Senior Correspondent, Larry Luxner. #RareDisease #PulmonaryFibrosis #MedSky

#PFFSummit: Karen Mancera-Cuevas, DrPH, senior director of health equity at the National Health Council, speaking Nov. 14 at the 2025 PFF Summit in Chicago. Image & quote taken by Senior Correspondent, Larry Luxner. #RareDisease #PulmonaryFibrosis #ClinicalTrial #PFF #MedSky

🎨 “Rare Vision,” founded by Gabriela Romanow of @MassGeneralNews, brings together artists with rare neuroimmune disorders to showcase their work & support MGH’s Neuroimmunology Clinic. Read the feature by Larry Luxner️ ➡️: https://bit.ly/3LBHDSx #MedSky #RareDisease #NeuroimmuneDisorders

💭 Alithea Athans, CAD Contributor, reflects on the emotional journey of living with a rare disease — and what it means to grieve your past self. Read more ➡️ https://bit.ly/47WriPI #ColdAgglutininDisease #CAD #RareDisease #RareVoices

Nerve ultrasound is a “highly promising” tool for the differential diagnosis of inherited and acquired #DemyelinatingPolyneuropathies. Published in journal Neuropediatrics. Read more: https://bit.ly/4qSnqId #RareDisease #CIDP #Neurology #NerveUltrasound #MedSky

A patient with a prostate-specific membrane antigen (#PSMA)-positive PET/CT findings was ultimately diagnosed with #SystemicMastocytosis (SM) rather than metastatic #ProstateCancer, according to a recently published case report. Read here: https://bit.ly/43tRgJf #RareDisease #MedSky

Gastrointestinal manifestations of immunoglobulin G4-related disease (#IgG4RD) have diverse pathological and endoscopic features, according to a study published in the Journal of Gastroenterology. Learn more: https://bit.ly/48df2M0 #RareDisease #Gastroenterology #ImmunoglobulinG4RelatedDisease

Switching from #Rituximab to #Eculizumab as maintenance therapy for neuromyelitis optica spectrum disorder (#NMOSD) may reduce the frequency and duration of hospitalizations. Study in Neurology and Therapy. Read here: https://bit.ly/3LKdPTL #RareDisease #Neurology #MedSky #RareSky