Rare Disease Advisor (@raredisease_adv) 's Twitter Profile
Rare Disease Advisor

@raredisease_adv

Trusted knowledge base of practical information and resources focused on treating and diagnosing #RareDisease.

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linkhttps://www.rarediseaseadvisor.com/ calendar_today17-03-2021 20:37:38

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A study suggests that adjusting #eltrombopag dosages based on individual drug concentrations can significantly improve treatment outcomes in pediatric immune thrombocytopenia. Read more: rarediseaseadvisor.com/news/personali… #BloodDisease #Hematology

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ANCA-associated vasculitis is typically managed by #rheumatology & #nephrology, but its multisystemic nature often needs input from other specialties. Aural symptoms, found in 10%-60% of cases, were initially overlooked. Read more ➡️ bit.ly/4dVeye0 #MedNews

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💡Researchers found that a 12-week home-based exercise program developed for patients with primary biliary cholangitis was safe, well-tolerated, and resulted in improvements in daytime somnolence, fatigue & physical function. 📚 JHEP Reports rarediseaseadvisor.com/news/home-exer…

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#Salidroside shows potential in treating pulmonary arterial hypertension. Read more: rarediseaseadvisor.com/news/salidrosi… #MedTwitter #MedNews #RareDisease

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Alloantibodies against the Rh and Kell antigens appear to be the most prevalent in pregnancies complicated with hemolytic disease of the fetus and newborn (#HDFN). 📚 Hematology, Transfusion and Cell Therapy Read more: hdfncompanion.com/news/study-rh-… #MaternalFetalMedicine

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A new analysis of phase 3 GRIPHON study data evaluated changes in risk status for pulmonary arterial hypertension (PAH) patients using the REVEAL 2.0 risk calculator from the Registry to Evaluate Early and Long-Term PAH Disease Management. Read more: rarediseaseadvisor.com/news/reveal-li…

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In patients with ANCA-associated vasculitis who are at high risk for #LungCancer, careful use of immunosuppressant therapy may help reduce this risk. 📚 Clinical and Experimental Medicine Read more: rarediseaseadvisor.com/news/reduced-l… #MedTwitter

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💡Research in #Obstetrics and #Gynecology reveals that incorporating c, E, Kell into RBC matching protocols can potentially decrease the risk of hemolytic disease of the fetus and newborn (#HDFN). Read more: bit.ly/3ZslgUG #MedTwitter

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There is no significant difference in overall survival, relapse, and nonrelapse mortality outcomes following haplo-cord transplant compared to adult-matched donors’ grafts in patients with myelofibrosis. Read more: bit.ly/4d8Sc7u

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A multinational survey highlighted the significant burden of hemophilia-affected joints on patients' pain levels and health-related quality of life, even with ongoing prophylaxis. Read survey findings here: rarediseaseadvisor.com/news/survey-hi…

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The Gly103Arg variant of hereditary transthyretin amyloidosis, specific to the Chinese population, presented predominantly with ophthalmological and peripheral nervous system symptoms linked to transthyretin amyloid polyneuropathy. 📚 Frontiers - Neurology bit.ly/4d4nSes

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A study has revealed that a larger maximal lifetime brain growth may help slow physical disability progression in patients with secondary progressive multiple sclerosis. Read more: bit.ly/47tsbii #Neurology

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“When I was first diagnosed with Pompe disease, my doctor advised me to stop all exercise. He said it would put more strain on my body and cause faster breakdown and weakness of my muscles. I have found the opposite to be true.” Read more: bit.ly/3ZrADMQ

“When I was first diagnosed with Pompe disease, my doctor advised me to stop all exercise. He said it would put more strain on my body and cause faster breakdown and weakness of my muscles. I have found the opposite to be true.”

Read more: bit.ly/3ZrADMQ
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The FDA has accepted KalVista Pharmaceuticals, Inc.’ New Drug Application for #sebetralstat, an oral plasma kallikrein inhibitor designed for the on-demand treatment of hereditary angioedema attacks in individuals over 12 years. bit.ly/3MOIk8h

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Cytokine receptor-like factor 2 overexpression appears to correlate with poor outcomes in patients with acute lymphoblastic leukemia. It could serve as a prognostic biomarker for overall survival. bit.ly/47s95cn

Larry Luxner (@lluxner) 's Twitter Profile Photo

My story in Rare Disease Advisor on #MIT math whiz Ben Lou, who maintains a perfect 5.0 GPA despite his #spinalmuscularatrophy, and his caregiver mom Jenny Huang. @mdaorg NORD Spinal Muscular Atrophy UK huihua (Jenny) huang #SMA #RareDisease Cure SMA rarediseaseadvisor.com/features/with-…

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#Scoliosis surgery seems to have a positive impact on respiratory function and overall satisfaction with posture and physical appearance in patients with spinal muscular atrophy. 📚 Muscle & Nerve Read more: rarediseaseadvisor.com/news/multidisc… #MedNews

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Researchers presented the case of a patient with #myelofibrosis being treated with #ruxolitinib who had cavitary lung lesions caused by a Pneumocystis jirovecii infection. Read more: bit.ly/3MPehxi #CaseReport

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A comprehensive review regarding the incidence, mechanisms, and clinical consequences of durvalumab-induced myasthenia gravis has been recently published in Cureus Journal of Medical Science. Read more: bit.ly/3B7y4FL #RareDisease