💡Serum neurofilament light chain levels correlate with small fiber-related parameters in patients with hereditary transthyretin amyloid polyneuropathy & may serve as a valuable biomarker of disease extent. 📚 Neurological Sciences

Read on: brnw.ch/21wJMoL

#Cardiology

'One of the biggest concerns that arises when learning you have a rare disease, as it was when I learned I had cold agglutinin disease (CAD), is health insurance and all that it entails.'

Read more in Alithea's latest column ➡️ brnw.ch/21wJMjD
#RareDiseaseCommunity

Myasthenia gravis (MG) is not a hereditary disease; nonetheless, patients who have this disorder tend to demonstrate a considerable amount of anxiety when it comes to pregnancy and #FamilyPlanning .

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#RareDisease #MedTwitter

New article posted on Rare Disease Advisor #MG : 'Investigating Myasthenia Crises and Length of Hospital Stays.' Read the full article here: buff.ly/3JX3JuJ #MyastheniaGravis #neurology #raredisease

A rare form of #myelofibrosis caused by a mutation in the megakaryocyte and platelet inhibitory receptor gene G6P (MPIG6B) appears to be most common in patients of Arab descent as per a #CaseReport in the Avicenna Journal of Medicine

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#MedNews

Reasons for applying for presymptomatic testing for Huntington disease are varied and related to age, according to a new study published in the journal Archives of Medical Research.

Read more: brnw.ch/21wJLB8

#RareDisease #Neurology

Kristy Coleman, an Immune Thrombocytopenia (ITP) columnist for Rare Disease Advisor, regularly delves into her personal journey with this rare condition. Yet, in a recent article, she redirects her attention to the parents of children grappling with ITP. brnw.ch/21wJK5l

A qualitative study underscores the need for greater awareness and support for mothers affected by hemolytic disease of the fetus and newborn ( #HDFN ) and fetal and neonatal alloimmune thrombocytopenia pregnancies.

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#MaternalFetalMedicine

A novel in-home #VirtualReality application for the self-management of chronic pain in adult patients with sickle cell disease has been found to be a relative success, according to a study published in Pain Management Nursing.

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#EaseVRx

Using a computational phenotype to spot disease relapse in ANCA-associated vasculitis patients shows strong performance. Results from the Rare Kidney Disease Registry and Biobank, published in RMD Open.

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#RareDisease

New on Rare Disease Advisor: Italfarmaco’s Newly Approved #Givinostat Already Helping Boys With Duchenne Muscular Dystrophy ➡️ brnw.ch/21wJHTr

Parent Project Muscular Dystrophy (PPMD) Muscular Dystrophy Association CureDuchenne

💡Triple therapy (ie, the combination of ursodeoxycholic acid [UDCA], obeticholic acid, and fibrates) was effective in achieving therapeutic goals in patients with primary biliary cholangitis who were unresponsive to UDCA.

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#RareDisease

💡A team of researchers from India presented what they called an “aberrant” case of neuromyelitis optica spectrum disorder (NMOSD).

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#RareDisease #CaseReport Cureus

A new #ClinicalTrial sponsored by IpsenUS aims to assess the efficacy of #elafibranor in treating primary biliary cholangitis.

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#RareDisease

The defective degradation of glycogenin-exposed residual glycogen within lysosomes appears to be involved in the pathophysiology of Pompe disease, according to a study published in The Journal of Pathology.

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#RareDisease #Neurology

#Danicopan has been granted #BreakthroughTherapy and #OrphanDrug designations by the US Food and Drug Administration, and the European Medicines Agency has granted danicopan PRIority Medicines status.

Read more: brnw.ch/21wJFEi

#RareDisease

The use of haploidentical hematopoietic #StemCellTransplantation may be a favorable therapeutic option for patients with paroxysmal nocturnal hemoglobinuria & severe pancytopenia that develops following long-term treatment of aplastic anemia➡️brnw.ch/21wJFtb

#CaseReport

A recent study published in Gut and Liver highlighted the presence of portal hypertension in a significant proportion of patients with pre-cirrhotic primary biliary cholangitis & identified key predictors for its development

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#Gastroenterology

Among patients with hemophilia, a paradox pain sensitivity situation has been reported, with measurements of pressure pain thresholds using the algometer and pressure pain thresholds using cuff pressure algometry varying.

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#RareDisease

In a study in OrphanetJournal at BMC, researchers surveyed individuals with Duchenne Muscular Dystrophy. They found that 31.6% experienced school bullying, with 75.7% linking it to their physical handicap.

Read more: brnw.ch/21wJDoS

#RareDisease